MMP13mutations are the cause of recessive metaphyseal dysplasia, Spahr type-Reference-Cited by-同舟云学术

MMP13mutations are the cause of recessive metaphyseal dysplasia, Spahr type

Published:2014-03-19 Issue:5 Volume:164 Page:1175-1179
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet

Author:

Bonafé Luisa¹,Liang Jinlong²,Gorna Maria W.³,Zhang Qingyan²,Ha-Vinh Russia¹,Campos-Xavier Ana Belinda¹,Unger Sheila⁴,Beckmann Jacques S.⁴,Le Béchec Antony⁵,Stevenson Brian⁵,Giedion Andres⁶,Liu Xuanzhu²,Superti-Furga Giulio³,Wang Wei²,Spahr André⁷,Superti-Furga Andrea¹⁸

Affiliation:

1. Division of Molecular Pediatrics; Lausanne University Hospital; Lausanne Switzerland

2. BGI-Shenzhen; Shenzhen China

3. CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences; Vienna Austria

4. Medical Genetics Service; Lausanne University Hospital; Lausanne Switzerland

5. Vital-IT-High Performance Computing Center; Swiss Institute of Bioinformatics; University of Lausanne; Lausanne Switzerland

6. Division of Radiology; University Children's Hospital; Zurich Switzerland

7. Cabinet de Pédiatrie; Sion Switzerland

8. Department of Pediatrics; Lausanne University Hospital, University of Lausanne; Lausanne Switzerland

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference12 articles.

1. RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms;Bonafe;Clin Genet,2002

2. Evolutionary comparison provides evidence for pathogenicity of RMRP mutations;Bonafe;PLoS Genet,2005

3. The second family with Spahr-type metaphyseal chondrodysplasia: Autosomal recessive inheritance confirmed;Farag;Clin Genet,1990

4. MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO);Kennedy;J Clin Invest,2005

5. Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia;Lausch;Am J Hum Genet,2009

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