Genetics of growth hormone deficiency

Mullis, Primus E (2007). Genetics of growth hormone deficiency. Endocrinology and metabolism clinics of North America, 36(1), pp. 17-36. Philadelphia, Pa.: Elsevier 10.1016/j.ecl.2006.11.010

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When a child is not following the normal, predicted growth curve, an evaluation for underlying illness and central nervous system abnormalities is required and appropriate consideration should be given to genetic defects causing growth hormone (GH) deficiency. This article focuses on the GH gene, the various gene alterations, and their possible impact on the pituitary gland. Transcription factors regulating pituitary gland development may cause multiple pituitary hormone deficiency but may present initially as GH deficiency. The role of two most important transcription factors, POU1F1 (Pit-1) and PROP 1, is discussed.

Item Type:

Journal Article (Further Contribution)

Division/Institute:

04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine

UniBE Contributor:

Mullis, Primus-Eugen

ISSN:

0889-8529

ISBN:

17336732

Publisher:

Elsevier

Language:

English

Submitter:

Anette van Dorland

Date Deposited:

04 Oct 2013 14:55

Last Modified:

05 Dec 2022 14:17

Publisher DOI:

10.1016/j.ecl.2006.11.010

PubMed ID:

17336732

Web of Science ID:

000245411700004

URI:

https://boris.unibe.ch/id/eprint/23430 (FactScience: 41804)

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