Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability

to related objects

Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1755-8166

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability ; volume:8 ; number:1 ; day:16 ; month:6 ; year:2015 ; pages:1-8 ; date:12.2015
Molecular cytogenetics ; 8, Heft 1 (16.6.2015), 1-8, 12.2015

Creator: Choucair, Nancy
Mignon-Ravix, Cecile
Cacciagli, Pierre
Abou Ghoch, Joelle
Fawaz, Ali
Mégarbané, André
Villard, Laurent
Chouery, Eliane

Contributor: SpringerLink (Online service)

DOI: 10.1186/s13039-015-0149-0

URN: urn:nbn:de:101:1-2021081719061063389272

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

Last update: 14.08.2025, 11:01 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

Choucair, Nancy
Mignon-Ravix, Cecile
Cacciagli, Pierre
Abou Ghoch, Joelle
Fawaz, Ali
Mégarbané, André
Villard, Laurent
Chouery, Eliane
SpringerLink (Online service)

Other Objects (12)

Intellectual disability associated with a homozygous missense mutation in THOC6

"Familial" versus "Sporadic" intellectual disability: contribution of common microdeletion and microduplication syndromes

19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome

A case report of familial 4q13.3 microdeletion in three individuals with syndromic intellectual disability

Large homozygous RAB3GAP1 gene microdeletion causes Warburg Micro Syndrome 1

A chromosome 1q22 microdeletion including ASH1L is associated with intellectual disability in a Chinese family

A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability

Novel homozygous variant in the TPO gene associated with congenital hypothyroidism and mild-intellectual disability

A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies

A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement

Autosomal dominant intellectual disability

Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family

Intellectual disability associated with a homozygous missense mutation in THOC6

"Familial" versus "Sporadic" intellectual disability: contribution of common microdeletion and microduplication syndromes

19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome

A case report of familial 4q13.3 microdeletion in three individuals with syndromic intellectual disability

Large homozygous RAB3GAP1 gene microdeletion causes Warburg Micro Syndrome 1

A chromosome 1q22 microdeletion including ASH1L is associated with intellectual disability in a Chinese family

A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability

Novel homozygous variant in the TPO gene associated with congenital hypothyroidism and mild-intellectual disability

A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies

A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement

Autosomal dominant intellectual disability

Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family

Intellectual disability associated with a homozygous missense mutation in THOC6

"Familial" versus "Sporadic" intellectual disability: contribution of common microdeletion and microduplication syndromes

19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome

A case report of familial 4q13.3 microdeletion in three individuals with syndromic intellectual disability

Large homozygous RAB3GAP1 gene microdeletion causes Warburg Micro Syndrome 1

A chromosome 1q22 microdeletion including ASH1L is associated with intellectual disability in a Chinese family

A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability

Novel homozygous variant in the TPO gene associated with congenital hypothyroidism and mild-intellectual disability

A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies

A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement

Autosomal dominant intellectual disability

Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family

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.

Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability

Object Details

References and Relationships

Contributors, Places and Time

Further information

Data provider

Associated

Other Objects (12)

Intellectual disability associated with a homozygous missense mutation in THOC6

"Familial" versus "Sporadic" intellectual disability: contribution of common microdeletion and microduplication syndromes

19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome

A case report of familial 4q13.3 microdeletion in three individuals with syndromic intellectual disability

Large homozygous RAB3GAP1 gene microdeletion causes Warburg Micro Syndrome 1

A chromosome 1q22 microdeletion including ASH1L is associated with intellectual disability in a Chinese family

A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability

Novel homozygous variant in the TPO gene associated with congenital hypothyroidism and mild-intellectual disability

A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies

A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement

Autosomal dominant intellectual disability

Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family

Intellectual disability associated with a homozygous missense mutation in THOC6

"Familial" versus "Sporadic" intellectual disability: contribution of common microdeletion and microduplication syndromes

19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome

A case report of familial 4q13.3 microdeletion in three individuals with syndromic intellectual disability

Large homozygous RAB3GAP1 gene microdeletion causes Warburg Micro Syndrome 1

A chromosome 1q22 microdeletion including ASH1L is associated with intellectual disability in a Chinese family

A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability

Novel homozygous variant in the TPO gene associated with congenital hypothyroidism and mild-intellectual disability

A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies

A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement

Autosomal dominant intellectual disability

Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family

Intellectual disability associated with a homozygous missense mutation in THOC6

"Familial" versus "Sporadic" intellectual disability: contribution of common microdeletion and microduplication syndromes

19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome

A case report of familial 4q13.3 microdeletion in three individuals with syndromic intellectual disability

Large homozygous RAB3GAP1 gene microdeletion causes Warburg Micro Syndrome 1

A chromosome 1q22 microdeletion including ASH1L is associated with intellectual disability in a Chinese family

A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability

Novel homozygous variant in the TPO gene associated with congenital hypothyroidism and mild-intellectual disability

A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies

A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement

Autosomal dominant intellectual disability

Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family

Related objects

Reset password