A Stop-gain Variant c.220C>T (p.(Gln74*)) in FLNB Segregates with Spondylocarpotarsal Synostosis Syndrome in a Consanguineous Family

Spondylocarpotarsal synostosis (SCT) syndrome is a very rare and severe form of skeletal dysplasia. The hallmark features of SCT are disproportionate short stature, scoliosis, fusion of carpal and tarsal bones, and clubfoot. Other common manifestations are cleft palate, conductive and sensorineural...

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Detalles Bibliográficos
Autores principales: Shahid, Hamna, Shakoor, Nazish, Bibi, Anisa, Qazi, Asma Saleem, Saeed, Rida Fatima, Nawaz, Aqeela, Malik, Sajid, Mumtaz, Sara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: YJBM 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10524816/
https://www.ncbi.nlm.nih.gov/pubmed/37781000
http://dx.doi.org/10.59249/UTCP9818

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