L1CAM mutation in association with X-linked hydrocephalus and Hirschsprung's disease

Pediatric Surgery International

Volumn 25, Issue 9, 2009, Pages 823-825

  Jackson, Sha Ron ^a   Guner, Yigit S ^a   Woo, Russell ^a   Randolph, Linda M ^a   Ford, Henri ^a   Shin, Cathy E ^a  

^a UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

Author keywords

Constipation; Hirschsprung's disease; Hydrocephalus; Neonate

Indexed keywords

ARTICLE; BRAIN VENTRICLE PERITONEUM SHUNT; CASE REPORT; CESAREAN SECTION; CONSTIPATION; EXON; GENE; GESTATIONAL AGE; HEMIZYGOSITY; HIRSCHSPRUNG DISEASE; HUMAN; HUMAN TISSUE; HYDROCEPHALUS; L1 CELL ADHESION MOLECULE GENE; MALE; MUTATIONAL ANALYSIS; NEWBORN; NEWBORN INTENSIVE CARE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RECTUM BIOPSY; STOP CODON; X CHROMOSOME LINKED DISORDER; X LINKED HYDROCEPHALUS;

CODON, NONSENSE; GENETIC DISEASES, X-LINKED; HIRSCHSPRUNG DISEASE; HUMANS; HYDROCEPHALUS; INFANT; MALE; NEURAL CELL ADHESION MOLECULE L1;

EID: 69549107522     PISSN: 01790358     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00383-009-2420-0     Document Type: Article

References (14)

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