Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations-Reference-Cited by-同舟云学术

Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations

Published:2013-04-23 Issue:6 Volume:161 Page:1354-1369
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Caparrós-Martin José A.,Valencia María¹,Pulido Veronica¹,Martínez-Glez Victor,Rueda-Arenas Inmaculada²,Amr Khalda³,Farra Chantal⁴,Lapunzina Pablo,Ruiz-Perez Victor L.,Temtamy Samia³,Aglan Mona³

Affiliation:

1. Instituto de Investigaciones Biomédicas; Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid; Madrid; Spain

2. Instituto de Genética Médica y Molecular (INGEMM); Hospital Universitario La Paz-IdiPaz, Universidad Autónoma de Madrid; Madrid; Spain

3. Human Genetics and Genome Research Division; National Research Centre; El-Dokki, Cairo; Egypt

4. Department of Pathology and Laboratory Medicine; American University of Beirut Medical Center; Beirut; Lebanon

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35938/fullpdf

Reference42 articles.

1. A scoring system for the assessment of clinical severity in osteogenesis imperfecta;Aglan;J Child Orthop,2012

2. Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta;Alanay;Am J Hum Genet,2010

3. Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish;Asharani;Am J Hum Genet,2012

4. Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta;Barnes;N Engl J Med,2006

5. Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding;Barnes;N Engl J Med,2010

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