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FOXN1 Duplication and Congenital Hypertrichosis.
Gilhooley, Eimear; Gormally, Siobhan; Irvine, Alan; Lynch, Sally Ann; Collins, Sinead.
Afiliación
  • Gilhooley E; Our Lady of Lourdes Hospital, Drogheda, County Louth, Ireland.
  • Gormally S; Our Lady of Lourdes Hospital, Drogheda, County Louth, Ireland.
  • Irvine A; Clinical Medicine, Trinity College, Dublin, Ireland.
  • Lynch SA; National Children's Research Centre, Dublin, Ireland.
  • Collins S; Paediatric Dermatology, Dublin, Ireland.
Pediatr Dermatol ; 34(2): e77-e79, 2017 Mar.
Article en En | MEDLINE | ID: mdl-28297140
We report a case of congenital hypertrichosis and FOXN1 duplication. FOXN1 is a member of the forkhead box gene family, located on chromosome 17. Its function includes differentiation of epithelial cells and regulation of keratinocytes, especially hair keratins. Loss of function of these transcription factors leads to a disruption in hair growth. As far as we are aware, this is the first case of FOXN1 duplication associated with congenital hypertrichosis to be reported in the literature.
Asunto(s)

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Factores de Transcripción Forkhead / Hipertricosis Límite: Child / Female / Humans Idioma: En Revista: Pediatr Dermatol Año: 2017 Tipo del documento: Article País de afiliación: Irlanda Pais de publicación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Factores de Transcripción Forkhead / Hipertricosis Límite: Child / Female / Humans Idioma: En Revista: Pediatr Dermatol Año: 2017 Tipo del documento: Article País de afiliación: Irlanda Pais de publicación: Estados Unidos