Otopalatodigital Syndrome Type I: Novel Characteristics and Prenatal Manifestations in two Siblings

Otopalatodigital spectrum disorder (OPDSD) is rare group of X-linked disorders caused by mutations in the filamin A (FLNA) gene. It is characterized by skeletal dysplasia of variable severity and different extra skeletal manifestations. Its presentation in the fetal period is quite unspecific, so di...

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Detalles Bibliográficos
Autores principales: Joksic, I, Cuturilo, G, Jurisic, A, Djuricic, S, Peterlin, B, Mijovic, M, Karadzov, Orlic N, Egic, A, Milovanovic, Z
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6956634/
https://www.ncbi.nlm.nih.gov/pubmed/31942422
http://dx.doi.org/10.2478/bjmg-2019-0024

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6956634/
https://www.ncbi.nlm.nih.gov/pubmed/31942422
http://dx.doi.org/10.2478/bjmg-2019-0024

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