American journal of medical genetics. Part A
Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia-FGFR2-Related.
Cheyenne Bates, Pardeep Gill, Matthew Choi, Frances Mahon, Blake Yarascavitch, Audrey Lim, Resham Ejaz
Published: 202510.1002/ajmg.a.64295
Abstract
The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2-related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial dif…
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