A diagnosis of hypochondroplasia by next generation sequencing
Author:
Affiliation:
1. Department of Pediatrics, Hallym University Chuncheon Sacred Heart Hospital, Chuncheon, Korea
Publisher
Korean Society of Medical Genetics
Subject
General Medicine
Link
http://pdf.medrang.co.kr/JGM/2016/013/JGM-13-046.pdf
Reference17 articles.
1. Winterpacht A, Hilbert K, Stelzer C, Schweikardt T, Decker H, and Segerer H et al. A novel mutation in FGFR-3 disrupts a putative N-glycosylation site and results in hypochondroplasia. Physiol Genomics 2000;2:9-12.
2. Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia
3. Shin S, Choi IH, Cho TJ, Ryang SW, Yoon KY, and Kim J et al. Mutation analysis of fibroblast growth factor receptor 3 (FGFR3) gene in Korean patients with achondroplasia and hypochondroplasia. Korean J Clin Pathol 2001;21:164-8.
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1. Earlier detection of hypochondroplasia: A large single‐center UK case series and systematic review;American Journal of Medical Genetics Part A;2020-10-14
2. Exome sequencing revealed a p.G299R mutation in the COMP gene in an Iranian family suffering from pseudoachondroplasia;The Journal of Gene Medicine;2019-07-11
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