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

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
Sarah T SouthM Zollino

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.

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Citations

Aug 5, 2011·American Journal of Medical Genetics. Part a·Andrew B CyrOleg A Shchelochkov
Aug 22, 2013·European Journal of Human Genetics : EJHG·Erica F AndersenSarah T South
Dec 23, 2009·Human Molecular Genetics·Angus G McQuibbanKarin Nowikovsky
Apr 23, 2009·Disease Models & Mechanisms·Catarina CatelaPascal Te Welscher
Apr 21, 2012·American Journal on Intellectual and Developmental Disabilities·Gene S FischAgatino Battaglia
Mar 4, 2010·European Journal of Medical Genetics·Femke HannesOlga Haus
May 19, 2009·American Journal of Medical Genetics. Part a·Giorgio A PaskulinCarla Graziadio
Apr 22, 2009·Developmental Medicine and Child Neurology·Agatino BattagliaJohn C Carey
Oct 21, 2009·American Journal of Medical Genetics. Part a·Vera GrossmannDieter Kotzot
Apr 24, 2009·Developmental Medicine and Child Neurology·A D Bergemann
Oct 22, 2008·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Marcella ZollinoGiovanni Neri
Mar 18, 2011·American Journal of Medical Genetics. Part a·Erin P Carmany, Erawati V Bawle
May 3, 2013·American Journal of Medical Genetics. Part a·Nobuhiko OkamotoToshiyuki Yamamoto
Nov 19, 2009·American Journal of Medical Genetics. Part a·Yasemin SoysalNecat Imirzalioğlu
Mar 8, 2017·Fetal and Pediatric Pathology·Sara RutterPatrick G Gallagher
Aug 5, 2015·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Agatino BattagliaSarah T South
Dec 21, 2013·American Journal of Medical Genetics. Part a·Kenji ShimizuYoshimitsu Fukushima
Sep 11, 2010·American Journal of Medical Genetics. Part a·Juliane TautzThomas Schaible
Oct 29, 2010·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Gene S FischRichard Simensen
May 30, 2012·Birth Defects Research. Part A, Clinical and Molecular Teratology·Desheng LiangLingqian Wu
Nov 21, 2020·Molecular Genetics & Genomic Medicine·Mona K MekkawyMona O El Ruby

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