SREBF1

SREBF1-syndromic epidermal differentiation disorder (SREBF1-sEDD)

1 article(s) in the watch · Constitutional genetics

Curated publications

Phenotypic Expansion of Autosomal Dominant SREBF1-Related Ichthyosis Follicularis, Atrichia, Photophobia: It Is in Fact the Same Condition as Hereditary Mucoepithelial Dysplasia.

SREBF1-syndromic epidermal differentiation disorder (SREBF1-sEDD)

Gén.20 May 2026

External references

OMIM ↗GeneReviews ↗ClinVar ↗NCBI Gene ↗

Automatic aggregation page — a clinical introduction may be added.