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...
Main Authors: | Sorin Ioan Iurian, Han Brunner, Helger Yntema, Bogdan Mehedintu |
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Format: | Article |
Language: | English |
Published: |
Amaltea Medical Publishing House
2014-03-01
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Series: | Romanian Journal of Pediatrics |
Subjects: | |
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 |
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