Compound heterozygosity for two GHR missense mutations in a patient affected by Laron Syndrome: a case report-Reference-Cited by-同舟云学术

Compound heterozygosity for two GHR missense mutations in a patient affected by Laron Syndrome: a case report

Published:2017-10-12 Issue:1 Volume:43 Page:
ISSN:1824-7288
Container-title:Italian Journal of Pediatrics
language:en
Short-container-title:Ital J Pediatr

Author:

Moia Stefania,Tessaris Daniele,Einaudi Silvia,de Sanctis Luisa,Bona Gianni,Bellone Simonetta,Prodam Flavia

Funder

Cariplo Ricerca Biomedica 2009 Grant: Identificazione di geni coinvolti nel deficit di GH mediante ricerca di riarrangiamenti genomici sul cromosoma X.

Publisher

Springer Science and Business Media LLC

Subject

General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13052-017-0411-7.pdf

Reference17 articles.

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2. Barton DE, Foellmer BE, Wood WI, Francke U. Chromosome mapping of the growth hormone receptor gene in man and mouse. Cytogenet Cell Genet. 1989;50:137–41.

3. Laron Z. Laron syndrome (primary growth hormone resistance or insensitivity): the personal experience 1958–2003. J Clin Endocrinol Metab. 2004;89:1031–44.

4. Klammt J, Shen S, Kiess W, Kratzsch J, Stobbe H, Vogel M, et al. Clinical and biochemical consequences of an intragenic growth hormone receptor (GHR) deletion in a large Chinese pedigree. Clin Endocrinol. 2015;82:453–61.

5. Godowski PJ, Leung DW, Meacham LR, Galgani JP, Hellmiss R, Keret R, et al. Characterization of the human growth hormone receptor gene and demonstration of a partial gene deletion in two patients with Laron-type dwarfism. Proc Natl Acad Sci U S A. 1989;86:8083–7.

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