Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein‐truncating alleles in Xia

Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein‐truncating alleles in Xia–Gibbs syndrome

Published:2021-03-06 Issue:5 Volume:42 Page:577-591
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Khayat Michael M.¹²^ORCID,Li He¹^ORCID,Chander Varuna¹²,Hu Jianhong¹,Hansen Adam W.¹²^ORCID,Li Shoudong¹,Traynelis Josh¹,Shen Hua¹,Weissenberger George¹,Stossi Fabio³⁴,Johnson Hannah L.³,Lupski James R.¹²⁵⁶^ORCID,Posey Jennifer E.²^ORCID,Sabo Aniko¹^ORCID,Meng Qingchang¹,Murdock David R.¹²,Wangler Michael²⁵,Gibbs Richard A.¹²

Affiliation:

1. Human Genome Sequencing Center Baylor College of Medicine Houston Texas USA

2. Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA

3. Integrated Microscopy Core, Advanced Technology Cores, Dan L Duncan Comprehensive Cancer Center Baylor College of Medicine Houston Texas USA

4. Department of Molecular and Cellular Biology Baylor College of Medicine Houston Texas USA

5. Texas Children's Hospital Houston Texas USA

6. Department of Pediatrics Baylor College of Medicine Houston Texas USA

Funder

National Human Genome Research Institute

National Science Foundation

Cancer Prevention and Research Institute of Texas

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24190

Reference25 articles.

1. Novel AHDC1 Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs Syndrome

2. Two Chinese Xia‐Gibbs syndrome patients with partial growth hormone deficiency

3. Dissecting the genetic basis of comorbid epilepsy phenotypes in neurodevelopmental disorders

4. Syndromic intellectual disability caused by a novel truncating variant in AHDC1: A case report;Díaz‐Ordoñez L.;Iranian Journal of Medical Sciences,2019

5. Whole-Exome Sequencing Identifies a de novo AHDC1 Mutation in a Colombian Patient with Xia-Gibbs Syndrome

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