Brachydactyly with Novel BMP8A and FGFR1 Variants: A Case Report with Review of Literature

Abstract Bone morphogenetic proteins (BMPs) and the fibroblast growth factor receptor 1 (FGFR1) gene play essential roles in the development and maintenance of the skeletal system. Brachydactyly is a genetic condition characterized by shortened or missing bones in the hands and feet. Several types o...

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Bibliographic Details

Published in:	Advanced Genetics
Main Authors:	Luke Hunter, Muhammad Ilyas
Format:	Article
Language:	English
Published:	Wiley 2025-09-01
Subjects:	BMP8A brachydactyly FGFR1 novel missense mutation phalangeal dysplasia
Online Access:	https://doi.org/10.1002/ggn2.202500015