Recessive omodysplasia: five new cases and review of the literature.

Recessive omodysplasia: five new cases and review of the literature.

BACKGROUND: Autosomal recessive omodysplasia (MIM 258315) is a rare skeletal dysplasia characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance. Fewer than 20 cases have been reported in the literature so far. OBJECTIV...

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Chi tiết về thư mục
Những tác giả chính:	Elçioglu, N, Gustavson, K, Wilkie, A, Yüksel-Apak, M, Spranger, J
Định dạng:	Journal article
Ngôn ngữ:	English
Được phát hành:	2004

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