autosomal dominant dyskeratosis congenita 3

A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TINF2 gene on chromosome 14q12.

Signs and symptoms

• Decreased total leukocyte count
• Nail dystrophy
• Macrocytic anemia
• Pancytopenia
• Decreased total neutrophil count
• Short telomere length
• Nail dysplasia
• Thrombocytopenia
• Oral leukoplakia
• Reticulated skin pigmentation

Also known as: DKCA3