LEOPARD SYNDROME. FAMILIAL CASES

• প্রধান লেখক: Sorin Ioan Iurian (লেখক), Han Brunner (লেখক), Helger Yntema (লেখক), Bogdan Mehedintu (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: Amaltea Medical Publishing House, 2014-03-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: Connect to this object online.

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...