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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Academy of Medical Sciences, Romanian Academy Publishing House, Bucharest
2021
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Materias: | |
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 |
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