Osteogenesis imperfecta: Novel genetic variants and clinical observations from a clinical exome study of 54 Indian patients-Reference-Cited by-同舟云学术

Osteogenesis imperfecta: Novel genetic variants and clinical observations from a clinical exome study of 54 Indian patients

Published:2020-08-07 Issue:1 Volume:85 Page:37-46
ISSN:0003-4800
Container-title:Annals of Human Genetics
language:en
Short-container-title:Annals of Human Genetics

Author:

Madhuri Vrisha¹²^ORCID,Selina Agnes¹²,Loganathan Lakshmi¹²,Kumar Ashis¹²,Kumar Vignesh¹²,Raymond Renita¹²,Ramesh Sowmya¹²,Vincy Nimmy¹²,Joel Giftson¹²,James Deeptiman¹,Kandagaddala Madhavi³^ORCID,B Antonisamy⁴

Affiliation:

1. Paediatric Orthopaedic Christian Medical College Vellore India

2. Centre for Stem Cell Research Christian Medical College Vellore India

3. Radiology Department Christian Medical College Vellore India

4. Biostatistics Department Christian Medical College Vellore India

Funder

Indian Council of Medical Research

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ahg.12403

Reference33 articles.

1. A Systematic Overview of Osteogenesis Imperfecta

2. Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish

3. Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta

4. Clinical and Molecular Characterization of Osteogenesis Imperfecta Type V

5. A novel mutation causes a perinatal lethal form of osteogenesis imperfecta. An insertion in one alpha 1(I) collagen allele (COL1A1).

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