Editorial: Next generation sequencing (NGS) for rare diseases diagnosis ‐ Volume II
Author:
Publisher
Frontiers Media SA
Subject
Genetics (clinical),Genetics,Molecular Medicine
Reference7 articles.
1. Homozygous null mutation in ODZ3 causes microphthalmia in humans;Aldahmesh;Genet. Med. official J. Am. Coll. Med. Genet.,2012
2. Nosology and classification of genetic skeletal disorders: 2015 revision;Bonafe;Am. J. Med. Genet. Part A.,2015
3. Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia;Chassaing;Am. J. Med. Genet. Part A.,2016
4. 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;Malfait;Hum. Mutat.,2010
5. Functional dysregulation of CDC42 causes diverse developmental phenotypes;Martinelli;Am. J. Hum. Genet.,2018
Cited by 2 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. Quantifying hope: An EU perspective of rare disease therapeutic space and market dynamics;2024-07-22
2. Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach;Molecular Genetics and Metabolism;2024-05
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