Late infantile Hirschsprung disease-mental retardation syndrome with a 3-bp deletion in ZFHX1B

Neurology

Volumn 59, Issue 10, 2002, Pages 1637-1640

  Yoneda, M ^a   Fujita, T ^b   Yamada, Y ^c   Yamada, K ^c   Fujii, A ^b   Inagaki, T ^a   Nakagawa, H ^a   Shimada, A ^d   Kishikawa, M ^d   Nagaya, M ^c   Azuma, T ^a   Kuriyama, M ^a   Wakamatsu, N ^c  

^a UNIVERSITY OF FUKUI   (Japan)

^b Fujita Memorial Hospital   (Japan)

^c INSTITUTE FOR DEVELOPMENTAL RESEARCH   (Japan)

^d INSTITUTE FOR DEVELOPMENTAL RESEARCH   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BASE PAIRING; CASE REPORT; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HIRSCHSPRUNG DISEASE; HUMAN; MEGACOLON; MENTAL RETARDATION MALFORMATION SYNDROME; NEURAL CREST; PRIORITY JOURNAL; PROTEIN DOMAIN;

EID: 0037180404     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000034842.78350.4E     Document Type: Article

References (10)

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