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Article

The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity.

Journal of medical genetics - 1 Sept 2017

Lee Beom Hee, Aggarwal Aneel, Slavotinek Anne, Edelmann Lisa, Chen Brenden, Desnick Robert J

Abstract excerpt

Focal facial dermal dysplasias (FFDDs) are rare genetic/developmental disorders characterised by bilateral 'scar-like' facial lesions. Four subtypes are classified by the bitemporal (FFDD1-3) or preauricular (FFDD4) lesion location. FFDD1-3 are differentiated by additional facial abnormalities and inheritance patterns. Although the genetic defects causing FFDD1 and FFDD2 remain unknown, recent studies identified...

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Identifiers

PMID: 28663233
DOI: 10.1136/jmedgenet-2017-104561

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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