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Craniofacial and cutaneous findings in Noonan, Costello and LEOPARD syndromes

Noonan, Costello and LEOPARD syndromes belong to a family of cardiofaciocutaneous disorders and share common genetic traits. As they are associated with a germline mutation in genes encoding proteins involved in RAS/MAPK, patients suffering from these syndromes are at a greater risk of cancer and ab...

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Detalles Bibliográficos
Autores principales: Pokrowiecki, Rafał, Chomik, Piotr, Borowiec, Maciej, Dowgierd, Krzysztof, Starzyńska, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Termedia Publishing House 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6232548/
https://www.ncbi.nlm.nih.gov/pubmed/30429698
http://dx.doi.org/10.5114/pdia.2017.70330