title: Apparently new autosomal dominant Spondyloepimetaphyseal dysplasia: gonadal mosaicism onset.
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.
authors.affiliation: Centre for Human Genetics, KULeuven, Belgium.
authors.forename: T J L
authors.initials: TJ
authors.lastname: de Ravel
authors.forename: L
authors.initials: L
authors.lastname: De Smet
authors.forename: J-P
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D024043:Collagen Type II / Q000235:genetics; D005192:Family Health; D005260:Female; D005799:Genes, Dominant; D006621:Hip Joint / Q000002:abnormalities; D006801:Humans; D007719:Knee Joint / Q000002:abnormalities; D009030:Mosaicism / Q000235:genetics* / Q000473:pathology*; D010009:Osteochondrodysplasias / Q000235:genetics* / Q000473:pathology*; D013131:Spine / Q000002:abnormalities
chemical_list: C499177:COL2A1 protein, human; D024043:Collagen Type II