Human genes for focal dermal hypoplasia
Focal dermal hypoplasia [DOID:2120]
A syndrome characterized at birth by streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases, and has_material_basis_in heterozygous mutation in the PORCN gene on chromosome Xp11.23.
Synonyms: focal dermal hypoplasia, DOID:2120, focal dermal hypoplasias, FDH, FODH ...
Linkouts: OMIM