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Article

Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta.

Bone - 1 May 2018

Mrosk Julia, Bhavani Gandham SriLakshmi, Shah Hitesh, Hecht Jochen, Krüger Ulrike, Shukla Anju, Kornak Uwe, Girisha Katta Mohan

Abstract excerpt

Osteogenesis Imperfecta (OI) is a clinically and genetically heterogeneous disorder. Although differential diagnosis is greatly facilitated by next generation sequencing, its availability can vary considerably. In this study, we compared targeted gene panel or exome sequencing with clinical scoring and grouping in a cohort of 50 OI index patients recruited by a single Indian clinical center in an unselected...

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Identifiers

PMID: 29499418
DOI: 10.1016/j.bone.2018.02.029

Genes

FKBP10
WNT1
BMP1
IFITM5
SERPINF1

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