Mutations in patients with osteogenesis imperfecta from consanguineous Indian families
Author:
Funder
Department of Biotechnology
Indian Council of Medical Research, New Delhi
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics,General Medicine
Reference14 articles.
1. Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta;Becker;Am J Hum Genet,2011
2. Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfect identifies mutations in five genes and suggests genotype–phenotype correlations;Caparrós-Martin;Am J Med Genet Part A.,2013
3. Mutations in WNT1 cause different forms of bone fragility;Keupp;Am J Hum Genet,2013
4. Mutations in collagen genes: causes of rare and some common diseases in humans;Kuivaniemi;FASEB J,1991
5. New genes in bone development: what's new in osteogenesis imperfecta;Marini;J Clin Endocrinol Metab,2013
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4. Osteogenesis imperfecta: Strengthening knowledge of bones and genes;Journal of Pediatric Endocrinology and Diabetes;2023-11-18
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