Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification

American Journal of Medical Genetics. Part a
Jesse M HunterLisa Baumbach-Reardon

Abstract

The following is a review of 50 X-linked syndromes and conditions associated with either arthrogryposis or other types of early contractures. These entities are categorized as those with known responsible gene mutations, those which are definitely X-linked, but the responsible gene has not been identified, and those suspected from family history to be X-linked. Several important ontology pathways for known disease genes have been identified and are discussed in relevance to clinical characteristics. Tables are included which help to identify distinguishing clinical features of each of the conditions.

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Citations

Jan 12, 2016·The Journal of Clinical Investigation·Yavuz BayramJames R Lupski
Mar 21, 2017·Clinical Genetics·E ReinsteinM Shohat
Jul 5, 2019·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Judith G HallKlaus Dieterich
Jul 19, 2019·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Isabel FilgesJudith G Hall
Aug 2, 2019·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Jeff Kiefer, Judith G Hall
Feb 20, 2019·EMBO Molecular Medicine·Hang ZhouPeiqiang Su
Dec 31, 2019·Molecular Genetics & Genomic Medicine·Dan WangWeihong Song
Aug 15, 2019·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Klaus DieterichJudith G Hall
Mar 17, 2017·Annual Review of Genomics and Human Genetics·Judith G Hall
Jan 30, 2021·Molecular Genetics & Genomic Medicine·Jingwei LiuXiaofan Yang

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