title: Interstitial microdeletion of 4p16.3: contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf-Hirschhorn syndrome.
authors.forename: Kosuke
authors.initials: K
authors.lastname: Izumi
authors.forename: Hironobu
authors.initials: H
authors.lastname: Okuno
authors.forename: Katsuhiro
authors.initials: K
authors.lastname: Maeyama
authors.forename: Seiji
authors.initials: S
authors.lastname: Sato
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Yamamoto
authors.forename: Chiharu
authors.initials: C
authors.lastname: Torii
authors.forename: Rika
authors.initials: R
authors.lastname: Kosaki
authors.forename: Takao
authors.initials: T
authors.lastname: Takahashi
authors.forename: Kenjiro
authors.initials: K
authors.lastname: Kosaki
mesh_terms: D020029:Base Pairing / Q000235:genetics; D002675:Child, Preschool; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D002658:Developmental Disabilities / Q000150:complications / Q000209:etiology* / Q000235:genetics; D019066:Facies; D005260:Female; D006238:Haploidy; D011495:Histone-Lysine N-Methyltransferase / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D011247:Pregnancy; D012097:Repressor Proteins / Q000235:genetics*; D054877:Wolf-Hirschhorn Syndrome / Q000150:complications* / Q000235:genetics*
chemical_list: D012097:Repressor Proteins; D011495:Histone-Lysine N-Methyltransferase; C419586:NSD2 protein, human