X‐linked intellectual disability: Phenotypic expression in carrier females-Reference-Cited by-同舟云学术

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X‐linked intellectual disability: Phenotypic expression in carrier females

Published:2019-11-24 Issue:3 Volume:97 Page:418-425
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Ziats Catherine A.¹,Schwartz Charles E.¹,Gecz Jozef²³⁴,Shaw Marie²,Field Michael J.⁵,Stevenson Roger E.¹^ORCID,Neri Giovanni¹⁶

Affiliation:

1. J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center Greenwood South Carolina

2. Adelaide Medical School, Faculty of Health and Medical SciencesThe University of Adelaide Adelaide South Australia Australia

3. Robinson Research InstituteThe University of Adelaide Adelaide South Australia Australia

4. Women and Kids, South Australian Health and Medical Research Institute Adelaide South Australia Australia

5. Hunter Genetics, Waratah New South Wales Australia

6. Istituto di Medicina GenomicaUniversità Cattolica del S. Cuore Rome Italy

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13667

Reference38 articles.

1. Eigentümliche, bisher nicht beschriebene Pigmentaffektion (Incontinentia pigmenti);Bloch B;Schweiz Med Wschr,1926

2. A PEDIGREE OF MENTAL DEFECT SHOWING SEX-LINKAGE

3. Hypertrophied Frenuli, Oligophrenia, Familial Trembling and Anomalies of the Hand

4. Focal Dermal Hypoplasia

5. Nonspecific X-linked mental retardation II: The frequency in British Columbia

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1. A novel Xp11.22 duplication involving HUWE1 in a male with syndromic intellectual disability and additional neurological findings;European Journal of Medical Genetics;2023-04

2. Skewed X-chromosome Inactivation in Women with Idiopathic Intellectual Disability is Indicative of Pathogenic Variants;Molecular Neurobiology;2023-03-21

3. X‐Linked intellectual disability update 2022;American Journal of Medical Genetics Part A;2022-10-27

4. A novel UBE2A splice site variant causing intellectual disability type Nascimento;Clinical Case Reports;2022-07

5. Exome sequencing identifies novel and known mutations in families with intellectual disability;BMC Medical Genomics;2021-08-27

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