Interstitial microdeletion of 4p16.3: contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf-Hirschhorn syndrome.
Izumi
Kosuke
K
Okuno
Hironobu
H
Maeyama
Katsuhiro
K
Sato
Seiji
S
Yamamoto
Toshiyuki
T
Torii
Chiharu
C
Kosaki
Rika
R
Takahashi
Takao
T
Kosaki
Kenjiro
K
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*
D012097:Repressor Proteins; D011495:Histone-Lysine N-Methyltransferase; C419586:NSD2 protein, human