Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Inga Köllner"'
Autor:
Inga Köllner, Reinhard Schilke, Georg Bohn, Chozhavendan Rathinam, Anna Allroth, Christoph Klein, Kaan Boztug, Carmela Beger, Alejandro A. Schäffer, Inga Sandrock, Bodo Grimbacher, Karl Welte, Gudrun Brandes, Johannes Jung
Publikováno v:
Blood. 108:362-369
We report on the molecular etiology of an unusual clinical phenotype associating congenital neutropenia, thrombocytopenia, developmental delay, and hypopigmentation. Using genetic linkage analysis and targeted gene sequencing, we defined a homozygous