Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia.
Tanaka
Akio
A
St John's Institute of Dermatology, King's College London (Guy's Campus), London, UK.
Morice-Picard
Fanny
F
Lacombe
Didier
D
Nagy
Nikoletta
N
Hide
Michihiro
M
Taïeb
Alain
A
McGrath
John
J
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*