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Article

Exome sequencing identified rare variants in genes HSPG2 and ATP2B4 in a family segregating developmental dysplasia of the hip.

BMC medical genetics - 21 Mar 2017

Basit Sulman, Albalawi Alia M, Alharby Essa, Khoshhal Khalid I

Abstract excerpt

BACKGROUND: Developmental dysplasia of the hip (DDH) is a common pathological condition of the musculoskeletal system in infants which results in a congenital and developmental malformation of the hip joint. DDH is a spectrum of pathologies affecting the infant hip ranging from asymptomatic subtle radiographic signs through mild instability to frank dislocations with acetabular dysplasia. A Saudi family with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28327142
DOI: 10.1186/s12881-017-0393-8
PMCID: PMC5361705

Genes

HSPG2

Provenance

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Exome sequencing identified rare variants in genes HSPG2 and ATP2B4 in a family segregating developmental dysplasia of the hip.PMID 28327142Read ↗

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