Searchable abstracts of presentations at key conferences in endocrinology

Endocrine Abstracts

Published by BioScientifica

Page 1 of about 1 results

ea0029p1304 | Paediatric endocrinology | ICEECE2012

A novel splicing mutation of the POU1F1 gene in Japanese identical twins with mild combined pituitary hormone deficiency

Mukai T. , Inoue H. , Ito Y. , Itakura M. , Fujieda K.

Background: Mutations in POU1F1/PIT1 gene, a pituitary-specific transcription factor, affect the development and function of the anterior pituitary and lead to combined pituitary hormone deficiency (CPHD).Objective: The clinical and genetic analysis of the twin patients presenting with mild form of CPHD and functional characterization of identified mutation.Cases: Five-year-old identical twin brothers were referred to determine the...
0 shares

Published by BioScientifica

Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
© Bioscientifica 2024 | Privacy policy | Cookie settings

BiosciAbstracts

Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.

Find out more