A Term Female Neonate with Achondroplasia: A Case Report

• Hoofdauteurs: Arun P (Auteur), Vijayalaxmi Gagandeep (Auteur), Md. Khaja Moinuddin (Auteur), Nagabhushan BM (Auteur)
• Formaat: Boek
• Gepubliceerd in: JCDR Research and Publications Pvt. Ltd., 2017-01-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

Achondroplasia is one of the commonest causes of dwarfism, inherited as autosomal dominant trait. Majority of the cases are due to mutation in the Fibroblast Growth Factor Receptor 3 (FGFR3). The mutation results in gain of FGFR3 function, which affects cartilaginous growth plate in the growing bone...