Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features

to related objects

Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: 1 Online-Ressource.

Language: Englisch

Bibliographic citation: Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features ; volume:143 ; number:12 ; day:25 ; month:10 ; year:2024 ; pages:1445-1457 ; date:12.2024
Human genetics ; 143, Heft 12 (25.10.2024), 1445-1457, 12.2024

Creator: Sharma, Prashant
McFadden, Jason R.
Frost, F. Graeme
Markello, Thomas C.
Grange, Dorothy K.
Introne, Wendy J.
Gahl, William A.
Malicdan, May Christine V.

Contributor: SpringerLink (Online service)

DOI: 10.1007/s00439-024-02708-8

URN: urn:nbn:de:101:1-2502062059295.343565989104

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:32 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

Sharma, Prashant
McFadden, Jason R.
Frost, F. Graeme
Markello, Thomas C.
Grange, Dorothy K.
Introne, Wendy J.
Gahl, William A.
Malicdan, May Christine V.
SpringerLink (Online service)

Other Objects (12)

Germline biallelic BRCA2 pathogenic variants and medulloblastoma: an international cohort study

Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis

Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds

Biallelic variants in KIF14 cause intellectual disability with microcephaly

Clinical and neuroradiological spectrum of biallelic variants in NOTCH3

Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1

Fatal systemic disorder caused by biallelic variants in FARSA

Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants

Body dysmorphic disorder

Ancestry-specific predisposing germline variants in cancer

Functional germline variants as potential co-oncogenes

Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures

Germline biallelic BRCA2 pathogenic variants and medulloblastoma: an international cohort study

Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis

Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds

Biallelic variants in KIF14 cause intellectual disability with microcephaly

Clinical and neuroradiological spectrum of biallelic variants in NOTCH3

Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1

Fatal systemic disorder caused by biallelic variants in FARSA

Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants

Body dysmorphic disorder

Ancestry-specific predisposing germline variants in cancer

Functional germline variants as potential co-oncogenes

Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures

Germline biallelic BRCA2 pathogenic variants and medulloblastoma: an international cohort study

Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis

Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds

Biallelic variants in KIF14 cause intellectual disability with microcephaly

Clinical and neuroradiological spectrum of biallelic variants in NOTCH3

Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1

Fatal systemic disorder caused by biallelic variants in FARSA

Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants

Body dysmorphic disorder

Ancestry-specific predisposing germline variants in cancer

Functional germline variants as potential co-oncogenes

Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures

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.

Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features

Object Details

References and Relationships

Contributors, Places and Time

Further information

Data provider

Associated

Other Objects (12)

Germline biallelic BRCA2 pathogenic variants and medulloblastoma: an international cohort study

Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis

Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds

Biallelic variants in KIF14 cause intellectual disability with microcephaly

Clinical and neuroradiological spectrum of biallelic variants in NOTCH3

Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1

Fatal systemic disorder caused by biallelic variants in FARSA

Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants

Body dysmorphic disorder

Ancestry-specific predisposing germline variants in cancer

Functional germline variants as potential co-oncogenes

Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures

Germline biallelic BRCA2 pathogenic variants and medulloblastoma: an international cohort study

Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis

Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds

Biallelic variants in KIF14 cause intellectual disability with microcephaly

Clinical and neuroradiological spectrum of biallelic variants in NOTCH3

Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1

Fatal systemic disorder caused by biallelic variants in FARSA

Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants

Body dysmorphic disorder

Ancestry-specific predisposing germline variants in cancer

Functional germline variants as potential co-oncogenes

Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures

Germline biallelic BRCA2 pathogenic variants and medulloblastoma: an international cohort study

Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis

Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds

Biallelic variants in KIF14 cause intellectual disability with microcephaly

Clinical and neuroradiological spectrum of biallelic variants in NOTCH3

Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1

Fatal systemic disorder caused by biallelic variants in FARSA

Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants

Body dysmorphic disorder

Ancestry-specific predisposing germline variants in cancer

Functional germline variants as potential co-oncogenes

Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures

Related objects

Reset password