Acromesomelic Dysplasia With Homozygosity for a Likely Pathogenic BMPR1B Variant: Postaxial Polydactyly as a Novel Clinical Finding

ABSTRACT 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, wit...

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Principais autores:	Ibrahim M. Abdelrazek, Alexej Knaus, Behnam Javanmardi, Peter M. Krawitz, Denise Horn, Ebtesam M. Abdalla, Sheetal Kumar
Format:	Artigo
Jezik:	Inglês
Izdano:	Wiley 2024-10-01
Serija:	Molecular Genetics & Genomic Medicine
Teme:	acromesomelic dysplasia BMPR1B du Pan GDF5
Online dostop:	https://doi.org/10.1002/mgg3.70023
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