Laron syndrome related to homozygous growth hormone receptor c.784 > C mutation in a patient with hypoplastic pulmonary arteries.

In this report, we present a 10-year-and-5-month-old girl with severe peripheral-type pulmonary artery hypoplasia and Laron syndrome related to homozygous GHR c.784>C mutation. PMID: 30720842 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/30720842?dopt=Abstract

Source: Cardiovascular Journal of Africa - January 22, 2019 Category: Cardiology Authors: Akinci A, Karakurt C, Hwa V, Dündar I, Çamtosun E Tags: Cardiovasc J Afr Source Type: research