一例伴有心脏和内分泌系统受累的女性局限性维阿克-沃尔夫综合征。 - Suppr

A case of female-restricted Wieacker-Wolff syndrome with heart and endocrinological involvement.

作者信息

Decio Alice, Marelli Susan, Mambretti Fabiana, Bassi Maria Teresa, D'Angelo Maria Grazia

机构信息

Unit of Rehabilitation of Rare Diseases of the Central and Peripheral Nervous System, Scientific Institute IRCCS E. Medea, Via Don L. Monza 20, 23842, Bosisio Parini (LC), Italy.

Molecular Biology Laboratory, IRCCS Eugenio Medea, Bosisio Parini (LC), Italy.

出版信息

Neurol Sci. 2024 Aug;45(8):4077-4081. doi: 10.1007/s10072-024-07457-0. Epub 2024 Mar 14.

DOI:10.1007/s10072-024-07457-0

PMID:38483676

Abstract

摘要

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本文引用的文献

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.

Hum Mutat. 2019 Dec;40(12):2270-2285. doi: 10.1002/humu.23841. Epub 2019 Aug 21.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.

Am J Hum Genet. 2013 May 2;92(5):681-95. doi: 10.1016/j.ajhg.2013.03.021. Epub 2013 Apr 25.

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.

J Med Genet. 2009 Aug;46(8):511-23. doi: 10.1136/jmg.2008.063412. Epub 2009 Apr 15.

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A case of female-restricted Wieacker-Wolff syndrome with heart and endocrinological involvement.

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