LEOPARD SYNDROME. FAMILIAL CASES

LEOPARD syndrome is a complex disorder characterized by multiple dysmorphogenetic features. Both syndromes LEOPARD and Noonan are caused by different mutations in the same gene (PTPN11). Authors emphasize diagnosis peculiarities in two related cases with facial dysmorphism. Index case is represented...

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Principais autores: Sorin Ioan Iurian (Autor), Han Brunner (Autor), Helger Yntema (Autor), Bogdan Mehedintu (Autor)
Formato: Livro
Publicado em: Amaltea Medical Publishing House, 2014-03-01T00:00:00Z.
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3rd Floor Main Library

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