Article
A Deletion of More than 800 kb Is the Most Recurrent Mutation in Chilean Patients with SHOX Gene Defects.
Hormone research in paediatrics - 1 Jan 2015
Poggi Helena, Vera Alejandra, Avalos Carolina, Lagos Marcela, Mellado Cecilia, Aracena Mariana, Aravena Teresa, Garcia Hernan, Godoy Claudia, Cattani Andreina, Reyes Loreto, Lacourt Patricia, Rumie Hana, Mericq Veronica, Arriaza Marta, Martinez-Aguayo Alejandro
Abstract excerpt
BACKGROUND: Deletions in the SHOX gene are the most frequent genetic cause of Leri-Weill syndrome and Langer mesomelic dysplasia, which are also present in idiopathic short stature. AIM: To describe the molecular and clinical findings observed in 23 of 45 non-consanguineous Chilean patients with different phenotypes related to SHOX deficiency. METHODS: Multiplex ligation-dependent probe amplification was used to...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.