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Pseudoachondroplasia: Report on a South African family

Pseudoachondroplasia is an autosomal dominant skeletal dysplasia that results in disproportionately short stature, severe brachydactyly with strikingly lax small joints, malalignments of the lower limbs, and characteristic radiological features. Although named ‘false achondroplasia’, the entity is a...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Shahida Moosa, Gen Nishimura
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: AOSIS 2013-06-01
Cyfres:South African Journal of Radiology
Pynciau:
Mynediad Ar-lein:https://sajr.org.za/index.php/sajr/article/view/247
Tagiau: Ychwanegu Tag
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