Ontology highlight
ABSTRACT:
SUBMITTER: El Husny AS
PROVIDER: S-EPMC4196791 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
El Husny Antonette Souto AS Raiol-Moraes Milene M Fernandes-Caldato Milena Coelho MC Ribeiro-Dos-Santos Andrea A
The application of clinical genetics 20140930
<h4>Objective</h4>To describe a novel KAL1 mutation in patients affected by Kallmann syndrome.<h4>Setting</h4>Endocrinology Clinic of the João de Barros Barreto University Hospital - Federal University of Pará, Brazil.<h4>Methods</h4>Clinical examination, hormone assays and sequencing of exons 5, 6 and 9 of the KAL1 gene in four Brazilian brothers with Kallmann syndrome.<h4>Results</h4>Detected a novel KAL1 mutation, c.612G.A/p.Trp204*, in four hemizygous brothers with Kallmann syndrome, and fiv ...[more]