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Exome sequencing identified rare variants in genes HSPG2 and ATP2B4 in a family segregating developmental dysplasia of the hip
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 r...
Autores principales: | Basit, Sulman, Albalawi, Alia M., Alharby, Essa, Khoshhal, Khalid I. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5361705/ https://www.ncbi.nlm.nih.gov/pubmed/28327142 http://dx.doi.org/10.1186/s12881-017-0393-8 |
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