LEOPARD SYNDROME. FAMILIAL CASES

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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Bibliographic Details
Main Authors: Sorin Ioan Iurian, Han Brunner, Helger Yntema, Bogdan Mehedintu
Format: Article
Language:English
Published: Amaltea Medical Publishing House 2014-03-01
Series:Romanian Journal of Pediatrics
Subjects:
leopard syndrome
child
Online Access:https://revistemedicale.amaltea.ro/Romanian_Journal_of_PEDIATRICS/Revista_Romana_de_PEDIATRIE-2014-Nr.1/EN/RJP_2014_1_EN_Art-11.pdf

Internet

https://revistemedicale.amaltea.ro/Romanian_Journal_of_PEDIATRICS/Revista_Romana_de_PEDIATRIE-2014-Nr.1/EN/RJP_2014_1_EN_Art-11.pdf

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