Article
Acromesomelic Dysplasia With Homozygosity for a Likely Pathogenic BMPR1B Variant: Postaxial Polydactyly as a Novel Clinical Finding.
Molecular genetics & genomic medicine - 1 Oct 2024
Abdelrazek Ibrahim M, Knaus Alexej, Javanmardi Behnam, Krawitz Peter M, Horn Denise, Abdalla Ebtesam M, Kumar Sheetal
Abstract excerpt
BACKGROUND: Acromesomelic chondrodysplasias are a rare subgroup of the clinically and genetically heterogeneous osteochondrodysplasias that are characterised by abnormalities in the limb development and short stature. Here, we report a 2-year-old boy, offspring of consanguineous parents, with acromesomelic dysplasia and postaxial polydactyly in which exome sequencing identified a novel homozygous missense variant...
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