AHDC1 missense mutations in Xia-Gibbs syndrome-Reference-Cited by-同舟云学术

AHDC1 missense mutations in Xia-Gibbs syndrome

Published:2021-10 Issue:4 Volume:2 Page:100049
ISSN:2666-2477
Container-title:Human Genetics and Genomics Advances
language:en
Short-container-title:Human Genetics and Genomics Advances

Author:

Khayat Michael M.^ORCID,Hu Jianhong,Jiang Yunyun,Li He,Chander Varuna,Dawood Moez,Hansen Adam W.,Li Shoudong,Friedman Jennifer,Cross Laura,Bijlsma Emilia K.,Ruivenkamp Claudia A.L.,Sansbury Francis H.,Innis Jeffrey W.,Omark O’Shea Jessica,Meng Qingchang,Rosenfeld Jill A.,McWalter Kirsty,Wangler Michael F.,Lupski James R.,Posey Jennifer E.,Murdock David,Gibbs Richard A.

Publisher

Elsevier BV

Subject

Genetics (clinical),Molecular Medicine

Reference38 articles.

1. Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia–Gibbs syndrome;Khayat;Hum. Mutat,2021

2. Novel AHDC1 Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs Syndrome;Cardoso-Dos-Santos;Mol. Syndromol.,2020

3. Two Chinese Xia-Gibbs syndrome patients with partial growth hormone deficiency;Cheng;Mol. Genet. Genomic Med.,2019

4. Syndromic Intellectual Disability Caused by a Novel Truncating Variant in AHDC1: A Case Report;Díaz-Ordoñez;Iran. J. Med. Sci.,2019

5. Whole-Exome Sequencing Identifies a de novo AHDC1 Mutation in a Colombian Patient with Xia-Gibbs Syndrome;García-Acero;Mol. Syndromol.,2017

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. <i>De novo</i> <i>AHDC1</i> Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome;Molecular Syndromology;2024-05-20

2. Ahdc1 is a potent regulator of obesity and energy metabolism;American Journal of Physiology-Endocrinology and Metabolism;2023-11-01

3. Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant – A Case Report and a Brief Review of the Literature;Molecular Syndromology;2023-09-08

4. Long read sequencing and expression studies ofAHDC1deletions in Xia‐Gibbs syndrome reveal a novel genetic regulatory mechanism;Human Mutation;2022-09-24

5. Different epilepsy course of a novel AHDC1 mutation in a female monozygotic twin pair;Seizure;2022-07