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

American Journal of Medical Genetics, Part A

Volumn 152, Issue 4, 2010, Pages 1028-1032

  Izumi, Kosuke ^a,b   Okuno, Hironobu ^a,c   Maeyama, Katsuhiro ^c   Sato, Seiji ^c   Yamamoto, Toshiyuki ^d   Torii, Chiharu ^a   Kosaki, Rika ^e   Takahashi, Takao ^a   Kosaki, Kenjiro ^a  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b UNIVERSITY HOSPITALS OF CLEVELAND   (United States)

^c Saitama City Hospital   (Japan)

^d TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^e NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CHROMOSOME DELETION 4; CHROMOSOME INVERSION 9; CLINICAL FEATURE; FACE DYSMORPHIA; FEMALE; GENE; GROWTH RETARDATION; HUMAN; INFANT; INTERSTITIAL CHROMOSOME DELETION; LETTER; MUSCLE HYPOTONIA; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; SEIZURE; WHSC1 GENE; WOLF HIRSCHHORN SYNDROME;

BASE PAIRING; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 4; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; FACIES; FEMALE; HAPLOIDY; HISTONE-LYSINE N-METHYLTRANSFERASE; HUMANS; INFANT; INFANT, NEWBORN; PREGNANCY; REPRESSOR PROTEINS; WOLF-HIRSCHHORN SYNDROME;

EID: 77950451652     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33121     Document Type: Letter

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