Somatic mosaicism and the phenotypic expression of COL2A1 mutations
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference14 articles.
1. A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome;Baker;Am J Med Genet Part A,2011
2. Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicism;Comstock;Am J Med Genet Part A,2010
3. Clinical variability of Stickler syndrome with a COL2A1 haploinsufficiency mutation: Implications for genetic counselling;Faber;J Med Genet,2000
4. A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and “patchy” expression in the mosaic father;Forzano;Am J Med Genet Part A,2007
5. Stickler syndrome caused by COL2A1 mutations: Genotype-phenotype correlation in a series of 100 patients;Hoornaert;Eur J Hum Genet,2010
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1. 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
2. A Novel Mutation c.3392G>T of COL2A1 Causes Spondyloepiphyseal Dysplasia Congenital by Affecting Pre-mRNA Splicing;Frontiers in Genetics;2022-04-05
3. Genome sequencing identifies three molecular diagnoses including a mosaic variant in the COL2A1 gene in an individual with Pol III–related leukodystrophy and Feingold syndrome;Molecular Case Studies;2021-11-04
4. Stickler syndrome – lessons from a national cohort;Eye;2021-10-05
5. Genetic Counseling: Preconception, Prenatal, and Perinatal;Genetic Disorders and the Fetus;2021-04-20
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