Developmental dysplasia of the hip caused by homozygous
TRIM33
pathogenic variant affecting downstream BMP pathway
Maya Gombosh,
Regina Proskorovski-Ohayon,
Yuval Yogev
et al.
Abstract:BackgroundDevelopmental dysplasia of the hip (DDH), formerly termed congenital dislocation of the hip, is the most common congenital disease of the musculoskeletal system in newborns. While familial predilection to DDH has been well documented, the molecular genetics/pathways of this common disorder are poorly understood.MethodsLinkage analysis and whole exome sequencing; real-time PCR studies of skin fibroblasts.ResultsConsanguineous Bedouin kindred presented with DDH with apparent autosomal recessive heredit… Show more
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