Pathogenic significance of deletions distal to the currently described Wolf-Hirschhorn syndrome critical regions on 4p16.3.

Marcella Zollino, Sarah South, Femke Hannes, Gene Fisch, Joris Robert Vermeesch

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

33 Citazioni (Scopus)

Abstract

Within recent years, numerous individuals have been identified with terminal 4p microdeletions distal to the currently described critical regions for the Wolf Hirschhorn syndrome (WHS). Some of these individuals do not display features consistent with WHS whereas others have a clinical phenotype with some overlap to the WHS phenotype. In this review we discuss the genetic and clinical presentation of these cases in an attempt to understand the consequence of monosomy of the genes distal to the proposed critical regions and identify the distal boundary for pathogenic genes involved in components of the WHS phenotype.
Lingua originaleEnglish
pagine (da-a)270-274
Numero di pagine5
RivistaAmerican Journal of Medical Genetics Part C
Volume148c
Stato di pubblicazionePubblicato - 2008

Keywords

  • LETM1
  • WHSC1
  • Wolf Hirschhorn syndrome critical region
  • distal 4p deletion

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