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Fishing for new genes in skin biology: impact of cytogenetics on gene discovery
Author(s) -
TadinStrapps M,
Warburton D,
SalasAlanis JC,
LopezCepeda LD,
Christiano AM
Publication year - 2004
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.0009-9163.2004.00301.x
Subject(s) - genodermatosis , biology , genetics , candidate gene , gene , ectodermal dysplasia , cytogenetics , neurofibromatosis , chromosome
Research into the field of skin biology has grown exponentially over the past two decades. Even though the fundamental molecular pathways are still not fully understood, there have been significant advances in our understanding of the underlying mechanisms involved in the pathogenesis of genodermatosis. The cloning of many candidate genes involved in the etiology of skin diseases has been facilitated by initial cytogenetic evidence. This review will synthesize recent findings that led to the discovery of candidate genes for anhidrotic ectodermal dysplasia, Williams‐Beuren syndrome, neurofibromatosis‐I and tricho‐rhino‐phalangeal syndrome.