Cardiofaciocutaneous syndrome – a longitudinal study of a case over 33 years: case report and review of the literature

Cardiofaciocutaneous (CFC) syndrome [Online Mendelian Inheritance in Man (OMIM) #115150] is characterized by craniofacial dysmorphism, heart malformation, ectodermal abnormalities, neuromotor delay and intellectual disability. It is not a frequent disease, about 300 cases have been reported in the m...

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Detalles Bibliográficos
Autores principales: Jurcă, Maria Claudia, Iuhas, Oana Alexandra, Puiu, Maria, Chiriţă-Emandi, Adela, Andreescu, Nicoleta Ioana, Petcheşi, Codruţa Diana, Jurcă, Alexandru Daniel, Magyar, Ioan, Jurcă, Sânziana Iulia, Kozma, Kinga, Severin, Emilia Maria, Bembea, Marius
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Academy of Medical Sciences, Romanian Academy Publishing House, Bucharest 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8848265/
https://www.ncbi.nlm.nih.gov/pubmed/35024745
http://dx.doi.org/10.47162/RJME.62.2.23

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8848265/
https://www.ncbi.nlm.nih.gov/pubmed/35024745
http://dx.doi.org/10.47162/RJME.62.2.23

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