Interstitial microdeletion of 4p16.3: Contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf-Hirschhorn syndrome

Kosuke Izumi, Hironobu Okuno, Katsuhiro Maeyama, Seiji Sato, Toshiyuki Yamamoto, Chiharu Torii, Rika Kosaki, Takao Takahashi, Kenjiro Kosaki

Research output: Contribution to journalArticle

10 Citations (Scopus)
Original languageEnglish
Pages (from-to)1028-1032
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume152
Issue number4
DOIs
Publication statusPublished - 2010 Apr

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Histone-Lysine N-Methyltransferase
Wolf-Hirschhorn Syndrome
Repressor Proteins
Haploinsufficiency
Chromosome Deletion
Developmental Disabilities
Chromosomes, Human, Pair 4
Comparative Genomic Hybridization
Haploidy
Preschool Children
Base Pairing
Newborn Infant
Pregnancy

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Interstitial microdeletion of 4p16.3 : Contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf-Hirschhorn syndrome. / Izumi, Kosuke; Okuno, Hironobu; Maeyama, Katsuhiro; Sato, Seiji; Yamamoto, Toshiyuki; Torii, Chiharu; Kosaki, Rika; Takahashi, Takao; Kosaki, Kenjiro.

In: American Journal of Medical Genetics, Part A, Vol. 152, No. 4, 04.2010, p. 1028-1032.

Research output: Contribution to journalArticle

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