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Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1

16 Nov 2012

Abstract excerpt

Focal facial dermal dysplasia (FFDD) Type IV is a rare syndrome characterized by facial lesions resembling aplasia cutis in a preauricular distribution along the line of fusion of the maxillary and mandibular prominences. To identify the causative gene(s), exome sequencing was performed in a family with two affected siblings. Assuming autosomal recessive inheritance, two novel sequence variants were identified in...

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PMID: 23161670
DOI: 10.1093/hmg/dds477

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