POSSIBILITIES AND LIMITS OF THERAPY IN A CASE OF HYPOCHONDROPLASIA

• Egile Nagusiak: Monica Alexoae (Egilea), Aurica Rugina (Egilea), Evelina Moraru (Egilea), Ileana Ioniuc (Egilea)
• Formatua: Liburua
• Argitaratua: Amaltea Medical Publishing House, 2014-03-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

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...