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SLC26A2

HGNC ↗

SLC26A2-related skeletal dysplasias (from recessive multiple epiphyseal dysplasia to atelosteogenesis type 2)

1 article(s) in the watch · Constitutional genetics

Curated publications

7/10

Delineating the Phenotypic Spectrum of SLC26A2-related Skeletal Dysplasias in a Cohort of 115 Patients: Evidence for a Novel Complex Allele Modifying Disease Severity.

SLC26A2-related skeletal dysplasias (from recessive multiple epiphyseal dysplasia to atelosteogenesis type 2)

Gén.6 October 2026

External references

OMIM ↗GeneReviews ↗ClinVar ↗NCBI Gene ↗

Automatic aggregation page — a clinical introduction may be added.