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Spondyloepimetaphyseal dysplasia with hypotrichosis

Apparently new autosomal dominant Spondyloepimetaphyseal dysplasia: gonadal mosaicism onset.

Related Articles

Apparently new autosomal dominant Spondyloepimetaphyseal dysplasia: gonadal mosaicism onset.

Clin Dysmorphol. 2002 Oct;11(4):261-6

Authors: de Ravel TJ, De Smet L, Fryns JP

Abstract
We report a family in which an apparently previously undescribed form of Spondyloepimetaphyseal dysplasia (SEMD) presented after probable gonadal mosaicism occurred and is inherited in an autosomal dominant mode. The other autosomal dominant SEMDs are compared.

PMID: 12401991 [PubMed - indexed for MEDLINE]

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