X-linked hydrocephalus: Another two families with an L1 mutation

Genetic Counseling

Volumn 14, Issue 1, 2003, Pages 57-65

  Rodriguez Criado, German ^a   Perez Aytes A ^b   Martinez F ^c   Vos, Y J ^d   Verlind, E ^d   Gonzalez Meneses Lopez, A ^a   Gomez De Terreros Sanchez, I ^a   Schrander Stumpel, C ^e,f  

^a HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^b Servicio de Pediatría Hospital Militar   (Spain)

^c HU Maternal La Fe   (Spain)

^d UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^e MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^f MAASTRICHT UNIVERSITY   (Netherlands)

Author keywords

Genetic counseling; L1 mutations; L1CAM; X linked hydrocephalus

Indexed keywords

NERVE CELL ADHESION MOLECULE;

ARTICLE; BRAIN AQUEDUCT; CASE REPORT; CHILD; CHORION VILLUS SAMPLING; EXON; FAMILY HISTORY; GENE LOCATION; GENE MUTATION; GENETIC COUNSELING; HETEROZYGOTE; HUMAN; HYDROCEPHALUS; MALE; MULTIGENE FAMILY; OPEN READING FRAME; PRENATAL DIAGNOSIS; X CHROMOSOME LINKAGE;

CHILD; CHILD, PRESCHOOL; CHORIONIC VILLI SAMPLING; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, X; CODON, NONSENSE; FEMALE; GENETIC SCREENING; HETEROZYGOTE DETECTION; HUMANS; HYDROCEPHALUS; INFANT; MALE; MENTAL RETARDATION; NEURAL CELL ADHESION MOLECULE L1; PARAPLEGIA; PHENOTYPE; PREGNANCY;

EID: 0037243392     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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