POSSIBILITIES AND LIMITS OF THERAPY IN A CASE OF HYPOCHONDROPLASIA

Hypocondroplasia is an autosomal dominant genetic disease caused by mutations in the receptor 3 of the fi broblast growth factor gene. The short stature’s negative impact on quality of life can be improved by early diagnosis and prompt recombinant growth hormone therapy. The authors present the case...

Full description

Bibliographic Details
Main Authors: Monica Alexoae, Aurica Rugina, Evelina Moraru, Ileana Ioniuc
Format: Article
Language:English
Published: Amaltea Medical Publishing House 2014-03-01
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-09.pdf