Association of X-linked hydrocephalus and Hirschsprung disease: Report of a new patient with a mutation in the L1CAM gene

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 4, 2012, Pages 816-820

  Fernández, Raquel M ^a,b   Núñez Torres, Rocío ^a,b   García Díaz, Lutgardo ^a   de Agustín, Juan Carlos ^a   Antiñolo, Guillermo ^a,b   Borrego, Salud ^a,b  

^a HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

Author keywords

Hirschsprung disease; Hydrocephalus; L1CAM; RET proto oncogene

Indexed keywords

ANORECTAL PRESSURE; ANUS SPHINCTER; ARTICLE; BRAIN AQUEDUCT STENOSIS; BRAIN CORTEX; BRAIN MALFORMATION; BRAIN VENTRICLE DILATATION; BRAIN VENTRICLE PERITONEUM SHUNT; CASE REPORT; CESAREAN SECTION; COMPUTER ASSISTED TOMOGRAPHY; CORPUS CALLOSUM AGENESIS; DISEASE ASSOCIATION; DISEASE SEVERITY; DYSTOCIA; ENHANCER REGION; FAMILY HISTORY; FOLLOW UP; GENE; GENE ACTIVITY; GENE DELETION; GENE MUTATION; GENETIC VARIABILITY; GESTATIONAL AGE; GROWTH RETARDATION; HEMIZYGOSITY; HETEROZYGOSITY; HIRSCHSPRUNG DISEASE; HUMAN; HUMAN TISSUE; HYDROCEPHALUS; INFANT; INTESTINE RESECTION; L1CAM GENE; MACROCEPHALY; MALE; MOLECULAR DYNAMICS; MUTATIONAL ANALYSIS; NEWBORN; NEWBORN PERIOD; NOSE FEEDING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; NUTRITIONAL SUPPORT; PARENTERAL NUTRITION; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FOLDING; PSYCHOMOTOR DISORDER; RECTUM BIOPSY; RET GENE; STOMACH DISTENSION; STOMACH MOTILITY; SUBSTITUTION LINE; TREATMENT OUTCOME; X CHROMOSOME LINKED DISORDER; X LINKED HYDROCEPHALUS;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; CEREBRAL AQUEDUCT; CORPUS CALLOSUM; DNA MUTATIONAL ANALYSIS; GENETIC DISEASES, X-LINKED; HIRSCHSPRUNG DISEASE; HUMANS; HYDROCEPHALUS; INFANT; MALE; NEURAL CELL ADHESION MOLECULE L1; SEQUENCE ANALYSIS, DNA;

EID: 84859001912     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35244     Document Type: Article

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