Conditions / Skin
autosomal recessive dyskeratosis congenita 3
info · Skin
A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the WRAP53 gene on chromosome 17p13.1.
Signs and symptoms
- Abnormal skin pigmentation
- Bone marrow hypocellularity
- Nail dystrophy
- Oral leukoplakia
- Short telomere length
- Squamous cell carcinoma of the tongue
- Pancytopenia
Also known as: DKCB3