title: Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia.
authors.affiliation: St John's Institute of Dermatology, King's College London (Guy's Campus), London, UK.
authors.forename: Akio
authors.initials: A
authors.lastname: Tanaka
authors.forename: Fanny
authors.initials: F
authors.lastname: Morice-Picard
authors.forename: Didier
authors.initials: D
authors.lastname: Lacombe
authors.forename: Nikoletta
authors.initials: N
authors.lastname: Nagy
authors.forename: Michihiro
authors.initials: M
authors.lastname: Hide
authors.forename: Alain
authors.initials: A
authors.lastname: Taïeb
authors.forename: John
authors.initials: J
authors.lastname: McGrath
mesh_terms: D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D004252:DNA Mutational Analysis; D017353:Gene Deletion; D008040:Genetic Linkage; D006801:Humans; D008126:Lod Score; D009503:Neutropenia / Q000175:diagnosis / Q000235:genetics*; D016366:Open Reading Frames / Q000235:genetics; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D011038:Rothmund-Thomson Syndrome / Q000175:diagnosis / Q000235:genetics*