Article
Homozygosity for a missense variant in COMP gene associated with severe pseudoachondroplasia.
Clinical genetics - 1 Jan 2018
Tariq M, Khan T N, Lundin L, Jameel M, Lönnerholm T, Baig S M, Dahl N, Klar J
Abstract excerpt
The phenotypic spectrum associated with heterozygous mutations in cartilage oligomeric matrix protein gene (COMP) range from a mild form of multiple epiphyseal dysplasia (MED) to pseudoachondroplasia (PSACH). However, the phenotypic effect from biallelic COMP variants is unclear. We investigated a large consanguineous Pakistani family with a severe form of PSACH in 2 individuals. Another 14 family members...
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