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Article

Focal facial dermal dysplasia type 4: identification of novel CYP26C1 mutations in unrelated patients.

Journal of human genetics - 1 Mar 2018

Lee Beom Hee, Morice-Picard Fanny, Boralevi Franck, Chen Brenden, Desnick Robert J

Abstract excerpt

The focal facial dermal dysplasias (FFDDs) are a group of rare inherited developmental disorders characterized by congenital scar-like atrophic lesions in the bitemporal (FFDD1, 2, and 3) or preauricular (FFDD4) areas. FFDD4 is an autosomal-recessive trait characterized by preauricular skin defects without additional dysmorphic findings. Previously, only two CYP26C1 mutations in four unrelated patients with FFDD4...

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PMID: 29263414
DOI: 10.1038/s10038-017-0375-x

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