ATP6V0A2

Autosomal recessive cutis laxa type 2 (ATP6V0A2), Debré syndrome

1 article(s) in the watch · Constitutional genetics

Curated publications

ATP6V0A2-Related Cutis Laxa: Identification of a Recurrent Exon 16 Deletion With Founder Effect in Southeastern Türkiye and a Novel Frameshift Variant

Autosomal recessive cutis laxa type 2 (ATP6V0A2), Debré syndrome

Gén.10 June 2026

External references

OMIM ↗GeneReviews ↗ClinVar ↗NCBI Gene ↗

Automatic aggregation page — a clinical introduction may be added.