Human genes for poikiloderma with neutropenia
Poikiloderma with neutropenia [DOID:0060551]
A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections and has_material_basis_in mutation in the C16ORF57 gene on chromosome 16q13.
Synonyms: poikiloderma with neutropenia, DOID:0060551, poikiloderma with neutropenias, poikiloderma with neutropenia, Clericuzio type, Clericuzio type poikiloderma with neutropenia ...