Article
A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2013
Matos-Miranda Claudia, Nimmo Graeme, Williams Bradley, Tysoe Carolyn, Owens Martina, Bale Sherri, Braverman Nancy
Abstract excerpt
PURPOSE: The only known genetic cause of brachytelephalangic chondrodysplasia punctata is X-linked chondrodysplasia punctata 1 (CDPX1), which results from a deficiency of arylsulfatase E (ARSE). Historically, ARSE mutations have been identified in only 50% of male patients, and it was proposed that the remainder might represent phenocopies due to maternal-fetal vitamin K deficiency and maternal autoimmune...
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