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Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.CDC42 的功能失调导致多种发育表型。
Am J Hum Genet. 2018 Feb 1;102(2):309-320. doi: 10.1016/j.ajhg.2017.12.015. Epub 2018 Jan 25.
2
Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia.TENM3参与常染色体隐性遗传性缺损性小眼症的确认。
Am J Med Genet A. 2016 Jul;170(7):1895-8. doi: 10.1002/ajmg.a.37667. Epub 2016 Apr 22.
3
Nosology and classification of genetic skeletal disorders: 2015 revision.遗传性骨骼疾病的疾病分类学与分类:2015年修订版
Am J Med Genet A. 2015 Dec;167A(12):2869-92. doi: 10.1002/ajmg.a.37365. Epub 2015 Sep 23.
4
Homozygous null mutation in ODZ3 causes microphthalmia in humans.ODZ3 基因纯合性缺失突变导致人类小眼畸形。
Genet Med. 2012 Nov;14(11):900-4. doi: 10.1038/gim.2012.71. Epub 2012 Jul 5.
5
Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene.肌肉骨骼型先天性弹性组织松解症(原 EDS 型 VIB)和内收拇指足畸形综合征(ATCS)是由编码 CHST14 基因的硫酸皮肤素-4-硫酸转移酶 1 突变引起的单一临床实体。
Hum Mutat. 2010 Nov;31(11):1233-9. doi: 10.1002/humu.21355.
6
Mendelian Inheritance in Man and its online version, OMIM.《人类孟德尔遗传》及其在线版本《在线孟德尔遗传》(OMIM)。
Am J Hum Genet. 2007 Apr;80(4):588-604. doi: 10.1086/514346. Epub 2007 Mar 8.
7
Isolated Norrie disease in a female caused by a balanced translocation t(X,6).一名女性因平衡易位t(X,6)导致的孤立性诺里病。
Ophthalmic Genet. 1998 Dec;19(4):203-7. doi: 10.1076/opge.19.4.203.2306.

Editorial: Next generation sequencing (NGS) for rare diseases diagnosis - Volume II.

作者信息

Yang Xiu-An, Hao Hu, Liao Can

机构信息

Laboratory of Genetic Engineering and Genomics, School of Basic Medical Sciences, Chengde Medical University, Chengde, China.

Hebei Key Laboratory of Nerve Injury and Repair, Chengde Medical University, Chengde, China.

出版信息

Front Genet. 2023 Jul 10;14:1249585. doi: 10.3389/fgene.2023.1249585. eCollection 2023.

DOI:10.3389/fgene.2023.1249585
PMID:37492233
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10365027/
Abstract
摘要