A familial case of achondrogenesis type II caused by a dominantCOL2A1 mutation and “patchy” expression in the mosaic father
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.32047/fullpdf
Reference7 articles.
1. Recurrence of achondrogenesis type II within the same family: Evidence for germline mosaicism
2. Mosaicism in pseudoachondroplasia
3. Germinal mosaicism in achondroplasia: a family with 3 affected siblings of normal parents
4. Achondrogenesis type 2 diagnosed by transvaginal ultrasound at 12 weeks' gestation
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4. Familial Aggregation of a Novel Missense Variant of COL2A1 Gene Associated with Short Extremities: Case Report and Review of the Literature;Children;2022-08-14
5. A Novel Mutation c.3392G>T of COL2A1 Causes Spondyloepiphyseal Dysplasia Congenital by Affecting Pre-mRNA Splicing;Frontiers in Genetics;2022-04-05
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