Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: a case report

BACKGROUND: Loss of function or gain of function variants of Filamin B (FLNB) cause recessive or dominant skeletal disorders respectively. Spondylocarpotarsal synostosis syndrome (SCT) is a rare autosomal recessive disorder characterized by short stature, fused vertebrae and fusion of carpal and tar...

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Detalles Bibliográficos
Autores principales: Yasin, Samina, Makitie, Outi, Naz, Sadaf
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7789006/
https://www.ncbi.nlm.nih.gov/pubmed/33407338
http://dx.doi.org/10.1186/s12891-020-03890-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7789006/
https://www.ncbi.nlm.nih.gov/pubmed/33407338
http://dx.doi.org/10.1186/s12891-020-03890-2

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