Whole Exome Sequencing in Individuals with Idiopathic Clubfoot Reveals a Recurrent Filamin B (FLNB) Deletion

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 kno...

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Detalles Bibliográficos
Autores principales: Quiggle, Ashley, Charng, Wu-Lin, Antunes, Lilian, Nikolov, Momchil, Bledsoe, Xavier, Hecht, Jacqueline T., Dobbs, Matthew B., Gurnett, Christina A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2022
Materias:
Basic Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8747482/
https://www.ncbi.nlm.nih.gov/pubmed/34491919
http://dx.doi.org/10.1097/CORR.0000000000001957

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8747482/
https://www.ncbi.nlm.nih.gov/pubmed/34491919
http://dx.doi.org/10.1097/CORR.0000000000001957

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