一名患有卡尔曼综合征和全前脑畸形的日本女孩中一种新的错义变体。 - Suppr

A novel missense variant of in a Japanese girl with Kallmann syndrome and holoprosencephaly.

作者信息

Uchida Noboru, Mizuno Yusuke, Seno Shohei, Koyama Yutaro, Takahashi Tsutomu, Shibata Hironori, Narumi Satoshi, Hasegawa Tomonobu, Ishii Tomohiro

机构信息

Department of Pediatrics, Saiseikai Utsunomiya Hospital, Utsunomiya, Japan.

Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

出版信息

Clin Pediatr Endocrinol. 2023;32(1):79-81. doi: 10.1297/cpe.2022-0060. Epub 2022 Oct 7.

DOI:10.1297/cpe.2022-0060

PMID:36761495

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9887292/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6dbd/9887292/2800bf543254/cpe-32-079-g001.jpg

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Structure, activation and dysregulation of fibroblast growth factor receptor kinases: perspectives for clinical targeting.

Biochem Soc Trans. 2018 Dec 17;46(6):1753-1770. doi: 10.1042/BST20180004. Epub 2018 Dec 13.

Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway.

Hum Mutat. 2016 Dec;37(12):1329-1339. doi: 10.1002/humu.23038. Epub 2016 Aug 23.

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.

FGFR1 mutations in Kallmann syndrome.

Front Horm Res. 2010;39:51-61. doi: 10.1159/000312693. Epub 2010 Apr 8.

Structure of the FGF receptor tyrosine kinase domain reveals a novel autoinhibitory mechanism.

Cell. 1996 Aug 23;86(4):577-87. doi: 10.1016/s0092-8674(00)80131-2.

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A novel missense variant of in a Japanese girl with Kallmann syndrome and holoprosencephaly.

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A novel missense variant of in a Japanese girl with Kallmann syndrome and holoprosencephaly.

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