A novel GH-1 gene mutation (GH-P59L) causes partial GH deficiency type II combined with bioinactive GH syndrome

Petkovic, Vibor; Eblé, Andrée; Pandey, Amit V; Betta, Marta; Mella, Patrizia; Flück, Christa E; Buzi, Fabio; Mullis, Primus-Eugen (2011). A novel GH-1 gene mutation (GH-P59L) causes partial GH deficiency type II combined with bioinactive GH syndrome. Growth hormone & IGF research, 21(3), pp. 160-6. Oxford: Elsevier 10.1016/j.ghir.2011.04.002

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Despite the differences in the main characteristics between the autosomal dominant form of GH deficiency (IGHD II) and the bioinactive GH syndrome, a common feature of both is their impact on linear growth leading to short stature in all affected patients.

Item Type:

Journal Article (Further Contribution)

Division/Institute:

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

UniBE Contributor:

Petkovic, Vibor, Pandey, Amit Vikram, Flück Pandey, Christa Emma, Mullis, Primus-Eugen

Subjects:

600 Technology > 610 Medicine & health

ISSN:

1096-6374

Publisher:

Elsevier

Language:

English

Submitter:

Amit Vikram Pandey

Date Deposited:

04 Oct 2013 14:24

Last Modified:

02 Mar 2023 23:20

Publisher DOI:

10.1016/j.ghir.2011.04.002

PubMed ID:

21546299

Web of Science ID:

000292439400008

URI:

https://boris.unibe.ch/id/eprint/8310 (FactScience: 213829)

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