Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4

to related objects

Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: Online-Ressource

Language: Englisch

Notes: Human mutation. - 40, 12 (2019) , 2318-2333, ISSN: 1098-1004

Event: Veröffentlichung

(where): Freiburg

(who): Universität

(when): 2019

Creator: Ballin, Nadja
Hotz, Alrun Göntje
Bourrat, Emmanuelle
Küsel, Julia
Oji, Vinzenz
Bouadjar, Bakar
Brognoli, Davide
Hickman, Geoffroy
Heinz, Lisa
Vabres, Pierre
Marrakchi, Slaheddine
Leclerc-Mercier, Stéphanie
Irvine, Alan
Tadini, Gianluca
Hamm, Henning
Has, Cristina
Blume-Peytavi, Ulrike
Mitter, Diana
Reitenbach, Marina
Haußer-Siller, Ingrid
Zimmer, Andreas D.
Alter, Svenja
Fischer, Judith

DOI: 10.1002/humu.23883

URN: urn:nbn:de:bsz:25-freidok-1515355

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:46 AM CEST

Data provider

This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.

Show original at data provider

Associated

Ballin, Nadja
Hotz, Alrun Göntje
Bourrat, Emmanuelle
Küsel, Julia
Oji, Vinzenz
Bouadjar, Bakar
Brognoli, Davide
Hickman, Geoffroy
Heinz, Lisa
Vabres, Pierre
Marrakchi, Slaheddine
Leclerc-Mercier, Stéphanie
Irvine, Alan
Tadini, Gianluca
Hamm, Henning
Has, Cristina
Blume-Peytavi, Ulrike
Mitter, Diana
Reitenbach, Marina
Haußer-Siller, Ingrid
Zimmer, Andreas D.
Alter, Svenja
Fischer, Judith
Universität

Time of origin

2019

Other Objects (12)

Maternal isodisomy of chromosome 3 combined with a de novo mutation in the ABHD5 gene causes autosomal recessive Chanarin-Dorfman syndrome

Dupilumab improves congenital ichthyosis

Hochschulschrift

Regulatorische Untersuchungen zur Suszeptibilität von E. coli gegenüber dem photodynamischen Prinzip am Beispiel des SoxRS-Regulons

Dupilumab bessert kongenitale Ichthyose : = Dupilumab improves congenital ichthyosis

Plantar involvement correlates with obesity, pain and impaired mobility in epidermolysis bullosa simplex: a retrospective cohort study

Quality of life and clinical characteristics of self‐improving congenital ichthyosis within the disease spectrum of autosomal recessive congenital ichthyosis

High rate of self‐improving phenotypes in children with non‐syndromic congenital ichthyosis: case series from south‐western Germany

Hautfragilität, Nierenfehlbildungen und interstitielle Lungenerkrankung aufgrund von compound‐heterozygoten ITGA3‐Mutationen

The position of targeted next-generation sequencing in epidermolysis bullosa diagnosis

Skin fragility, renal malformation and interstitial lung disease due to compound heterozygous ITGA3 mutations

Ichthyosis with Confetti inherited from a mosaic father

Acral lamellar ichthyosis with amino acid substitution in the C‐terminus of keratin 2

Maternal isodisomy of chromosome 3 combined with a de novo mutation in the ABHD5 gene causes autosomal recessive Chanarin-Dorfman syndrome

Dupilumab improves congenital ichthyosis

Hochschulschrift

Regulatorische Untersuchungen zur Suszeptibilität von E. coli gegenüber dem photodynamischen Prinzip am Beispiel des SoxRS-Regulons

Dupilumab bessert kongenitale Ichthyose : = Dupilumab improves congenital ichthyosis

Plantar involvement correlates with obesity, pain and impaired mobility in epidermolysis bullosa simplex: a retrospective cohort study

Quality of life and clinical characteristics of self‐improving congenital ichthyosis within the disease spectrum of autosomal recessive congenital ichthyosis

High rate of self‐improving phenotypes in children with non‐syndromic congenital ichthyosis: case series from south‐western Germany

Hautfragilität, Nierenfehlbildungen und interstitielle Lungenerkrankung aufgrund von compound‐heterozygoten ITGA3‐Mutationen

The position of targeted next-generation sequencing in epidermolysis bullosa diagnosis

Skin fragility, renal malformation and interstitial lung disease due to compound heterozygous ITGA3 mutations

Ichthyosis with Confetti inherited from a mosaic father

Acral lamellar ichthyosis with amino acid substitution in the C‐terminus of keratin 2

Maternal isodisomy of chromosome 3 combined with a de novo mutation in the ABHD5 gene causes autosomal recessive Chanarin-Dorfman syndrome

Dupilumab improves congenital ichthyosis

Hochschulschrift

Regulatorische Untersuchungen zur Suszeptibilität von E. coli gegenüber dem photodynamischen Prinzip am Beispiel des SoxRS-Regulons

Dupilumab bessert kongenitale Ichthyose : = Dupilumab improves congenital ichthyosis

Plantar involvement correlates with obesity, pain and impaired mobility in epidermolysis bullosa simplex: a retrospective cohort study

Quality of life and clinical characteristics of self‐improving congenital ichthyosis within the disease spectrum of autosomal recessive congenital ichthyosis

High rate of self‐improving phenotypes in children with non‐syndromic congenital ichthyosis: case series from south‐western Germany

Hautfragilität, Nierenfehlbildungen und interstitielle Lungenerkrankung aufgrund von compound‐heterozygoten ITGA3‐Mutationen

The position of targeted next-generation sequencing in epidermolysis bullosa diagnosis

Skin fragility, renal malformation and interstitial lung disease due to compound heterozygous ITGA3 mutations

Ichthyosis with Confetti inherited from a mosaic father

Acral lamellar ichthyosis with amino acid substitution in the C‐terminus of keratin 2

Cultural heritage institutions wishing to register will find more information here.

Fields marked * need to be filled in.

Username*

Please enter your username

Email*

Please enter your email address

Please do not fill this field

First name

Last name

Password*

Please enter your password

Confirm password*

Please enter the same password

I have read the terms of use and the privacy policy for the collection of personal data and accept them. *

This field is required.

I would like to subscribe to the newsletter of the Deutsche Digitale Bibliothek. See newsletter subscription info.

Account created

Your "My DDB" account has been successfully created. Before you can log in to your account, you must click the confirmation link in the message we just sent to the email address you provided.

Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4

Object Details

Contributors, Places and Time

Further information

Data provider

Associated

Time of origin

Other Objects (12)

Maternal isodisomy of chromosome 3 combined with a de novo mutation in the ABHD5 gene causes autosomal recessive Chanarin-Dorfman syndrome

Dupilumab improves congenital ichthyosis

Regulatorische Untersuchungen zur Suszeptibilität von E. coli gegenüber dem photodynamischen Prinzip am Beispiel des SoxRS-Regulons

Dupilumab bessert kongenitale Ichthyose : = Dupilumab improves congenital ichthyosis

Plantar involvement correlates with obesity, pain and impaired mobility in epidermolysis bullosa simplex: a retrospective cohort study

Quality of life and clinical characteristics of self‐improving congenital ichthyosis within the disease spectrum of autosomal recessive congenital ichthyosis

High rate of self‐improving phenotypes in children with non‐syndromic congenital ichthyosis: case series from south‐western Germany

Hautfragilität, Nierenfehlbildungen und interstitielle Lungenerkrankung aufgrund von compound‐heterozygoten ITGA3‐Mutationen

The position of targeted next-generation sequencing in epidermolysis bullosa diagnosis

Skin fragility, renal malformation and interstitial lung disease due to compound heterozygous ITGA3 mutations

Ichthyosis with Confetti inherited from a mosaic father

Acral lamellar ichthyosis with amino acid substitution in the C‐terminus of keratin 2

Maternal isodisomy of chromosome 3 combined with a de novo mutation in the ABHD5 gene causes autosomal recessive Chanarin-Dorfman syndrome

Dupilumab improves congenital ichthyosis

Regulatorische Untersuchungen zur Suszeptibilität von E. coli gegenüber dem photodynamischen Prinzip am Beispiel des SoxRS-Regulons

Dupilumab bessert kongenitale Ichthyose : = Dupilumab improves congenital ichthyosis

Plantar involvement correlates with obesity, pain and impaired mobility in epidermolysis bullosa simplex: a retrospective cohort study

Quality of life and clinical characteristics of self‐improving congenital ichthyosis within the disease spectrum of autosomal recessive congenital ichthyosis

High rate of self‐improving phenotypes in children with non‐syndromic congenital ichthyosis: case series from south‐western Germany

Hautfragilität, Nierenfehlbildungen und interstitielle Lungenerkrankung aufgrund von compound‐heterozygoten ITGA3‐Mutationen

The position of targeted next-generation sequencing in epidermolysis bullosa diagnosis

Skin fragility, renal malformation and interstitial lung disease due to compound heterozygous ITGA3 mutations

Ichthyosis with Confetti inherited from a mosaic father

Acral lamellar ichthyosis with amino acid substitution in the C‐terminus of keratin 2

Maternal isodisomy of chromosome 3 combined with a de novo mutation in the ABHD5 gene causes autosomal recessive Chanarin-Dorfman syndrome

Dupilumab improves congenital ichthyosis

Regulatorische Untersuchungen zur Suszeptibilität von E. coli gegenüber dem photodynamischen Prinzip am Beispiel des SoxRS-Regulons

Dupilumab bessert kongenitale Ichthyose : = Dupilumab improves congenital ichthyosis

Plantar involvement correlates with obesity, pain and impaired mobility in epidermolysis bullosa simplex: a retrospective cohort study

Quality of life and clinical characteristics of self‐improving congenital ichthyosis within the disease spectrum of autosomal recessive congenital ichthyosis

High rate of self‐improving phenotypes in children with non‐syndromic congenital ichthyosis: case series from south‐western Germany

Hautfragilität, Nierenfehlbildungen und interstitielle Lungenerkrankung aufgrund von compound‐heterozygoten ITGA3‐Mutationen

The position of targeted next-generation sequencing in epidermolysis bullosa diagnosis

Skin fragility, renal malformation and interstitial lung disease due to compound heterozygous ITGA3 mutations

Ichthyosis with Confetti inherited from a mosaic father

Acral lamellar ichthyosis with amino acid substitution in the C‐terminus of keratin 2

Related objects

Reset password