Article
Whole Exome Sequencing in Individuals with Idiopathic Clubfoot Reveals a Recurrent Filamin B (FLNB) Deletion.
Clinical orthopaedics and related research - 1 Feb 2022
Quiggle Ashley, Charng Wu-Lin, Antunes Lilian, Nikolov Momchil, Bledsoe Xavier, Hecht Jacqueline T, Dobbs Matthew B, Gurnett Christina A
Abstract excerpt
BACKGROUND: Clubfoot, a congenital deformity that presents as a rigid, inward turning of the foot, affects approximately 1 in 1000 infants and occurs as an isolated birth defect in 80% of patients. Despite its high level of heritability, few causative genes have been identified, and mutations in known genes are only responsible for a small portion of clubfoot heritability. QUESTIONS/PURPOSES: (1) Are any rare...
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