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Autosomal recessive multiple epiphyseal dysplasia

Vertaling van "multiple epiphyseal dysplasia " (Engels → Nederlands) :

Multiple epiphyseal dysplasia with severe proximal femoral dysplasia

multipele epifysaire dysplasie, met ernstige proximale femorale dysplasie


A rare familial skeletal dysplasia with characteristics of multiple epiphyseal dysplasia with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family. A mutation in PTHR1 gene is responsible for this synd

Eiken-syndroom


Autosomal recessive multiple epiphyseal dysplasia

autosomaal recessieve meervoudige epifysaire dysplasie




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'multiple epiphyseal dysplasia' ->

Date index: 2023-07-28
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