Mutrations in the C16orf57 gene cause Poikiloderma with Neutropenia syndrome (PN OMIM #604173) a rare autosomic recessive genodermatosis characterized by persistent neutropenia, pachyonychia, palmo- plantar hyperkeratosis and high susceptibility in myelodisplasia
Poikiloderma with neutropenia: Delineation of novel mutations and geographic clusters / E. Colombo, G. Roversi, N. Elcioglu, G. Fremont, L. Volpi, L. Larizza. ((Intervento presentato al convegno ASHG meeting 2010, 2380/T. tenutosi a Washington, DC USA nel 2010.
Poikiloderma with neutropenia: Delineation of novel mutations and geographic clusters
E. Colombo;L. Volpi;L. Larizza
2010
Abstract
Mutrations in the C16orf57 gene cause Poikiloderma with Neutropenia syndrome (PN OMIM #604173) a rare autosomic recessive genodermatosis characterized by persistent neutropenia, pachyonychia, palmo- plantar hyperkeratosis and high susceptibility in myelodisplasia
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