Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1-Reference-Cited by-同舟云学术

Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1

Published:2021-09 Issue:9 Volume:64 Page:104280
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Faergeman Soren L.^ORCID,Bojesen Anders B.,Rasmussen Maria^ORCID,Becher Naja,Andreasen Lotte^ORCID,Andersen Brian N.,Erbs Emilie^ORCID,Lildballe Dorte L.,Nielsen Jens Erik K.,Zilmer Monica^ORCID,Hammer Trine Bjørg,Andersen Mikkel Ø.^ORCID,Brasch-Andersen Charlotte,Fagerberg Christina R.,Illum Niels O.,Thorup Mette B.,Gregersen Pernille A.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference21 articles.

1. Aligning Sequence Reads, Clone Sequences and Assembly Contains with BWA-MEM;L,2013

2. Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk;Castel;Nat. Genet.,2018

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

4. Extending the phenotype of Xia-Gibbs syndrome in a two-year-old patient with craniosynostosis with a novel de novo AHDC1 missense mutation;Gumus;Eur. J. Med. Genet.,2020

5. Recurrent hypoplasia of corpus callosum as a prenatal phenotype of Xia-Gibbs syndrome caused by maternal germline mosaicism of an AHDC1 variant;He;Eur. J. Obstet. Gynecol. Reprod. Biol.,2020

Cited by 4 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. 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

3. A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders;Frontiers in Molecular Neuroscience;2022-10-06

4. Genotype–phenotype spectrum and correlations in Xia‐Gibbs syndrome: Report of five novel cases and literature review;Birth Defects Research;2022-06-18