Intragenic Deletions in FLNB Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome

Spondylocarpotarsal synostosis syndrome (SCT) is characterized by vertebral fusions, a disproportionately short stature, and synostosis of carpal and tarsal bones. Pathogenic variants in FLNB, MYH3, and possibly in RFLNA, have been reported to be responsible for this condition. Here, we present two...

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Detalles Bibliográficos
Autores principales: Fukushima, Kaya, Parthasarathy, Padmini, Wade, Emma M., Morgan, Tim, Gowrishankar, Kalpana, Markie, David M., Robertson, Stephen P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8065484/
https://www.ncbi.nlm.nih.gov/pubmed/33916386
http://dx.doi.org/10.3390/genes12040528

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8065484/
https://www.ncbi.nlm.nih.gov/pubmed/33916386
http://dx.doi.org/10.3390/genes12040528

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