A Known SOST Gene Mutation Causes Sclerosteosis in a Familial and an Isolated Case from Brazilian Origin-Reference-Cited by-同舟云学术

A Known SOST Gene Mutation Causes Sclerosteosis in a Familial and an Isolated Case from Brazilian Origin

Published:2008-12 Issue:4 Volume:12 Page:475-479
ISSN:1090-6576
Container-title:Genetic Testing
language:en
Short-container-title:Genetic Testing

Author:

Kim Chong Ae¹,Honjo Rachel¹,Bertola Débora¹,Albano Lílian¹,Oliveira Luiz¹,Jales Sumatra²,Siqueira José²,Castilho Arthur³,Balemans Wendy⁴,Piters Elke⁴,Jennes Karen⁴,Van Hul Wim⁴

Affiliation:

1. Clinical Genetics Unit, Instituto da Criança, Hospital das Clínicas, USP, São Paulo, Brazil.

2. Dentistry Unit, HC/FMUSP, São Paulo, Brazil.

3. ENT (Otolaryngology) Unit, HC/FMUSP, São Paulo, Brazil.

4. Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.

Publisher

Mary Ann Liebert Inc

Subject

Genetics (clinical)

Link

http://www.liebertpub.com/doi/pdf/10.1089/gte.2008.0036

Reference21 articles.

1. A generalized skeletal hyperostosis in two siblings caused by a novel mutation in the gene

2. Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)

3. Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease

4. Localization of the Gene for Sclerosteosis to the van Buchem Disease–Gene Region on Chromosome 17q12–q21

5. Sclerosteosis.

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