Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia

Am J Med Genet A. 2010 Jun;152A(6):1347-8. doi: 10.1002/ajmg.a.33455.

Authors

Akio Tanaka¹, Fanny Morice-Picard, Didier Lacombe, Nikoletta Nagy, Michihiro Hide, Alain Taïeb, John McGrath

Affiliation

¹ St John's Institute of Dermatology, King's College London (Guy's Campus), London, UK.

PMID: 20503306
DOI: 10.1002/ajmg.a.33455

No abstract available

MeSH terms

Chromosomes, Human, Pair 16 / genetics*
DNA Mutational Analysis
Gene Deletion*
Genetic Linkage
Humans
Lod Score
Neutropenia / diagnosis
Neutropenia / genetics*
Open Reading Frames / genetics
Pedigree
Polymorphism, Single Nucleotide
Rothmund-Thomson Syndrome / diagnosis
Rothmund-Thomson Syndrome / genetics*