Congenital hydrocephalus in clinical practice: A genetic diagnostic approach

European Journal of Medical Genetics

Volumn 54, Issue 6, 2011, Pages

  Verhagen, J M A ^a,b   Schrander Stumpel, C T R M ^b,c   Krapels, I P C ^b,c   de Die Smulders, C E M ^b,c   van Lint, F H M ^b   Willekes, C ^b,c   Weber, J W ^b,c   Gavilanes, A W D ^c   Macville, M V E ^b,c   Stegmann, A P A ^b,c   Engelen, J J M ^b,c   Bakker, J ^b,c   Vos, Y J ^d   Frints, S G M ^b,c  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b MAASTRICHT UNIVERSITY   (Netherlands)

^c MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

Congenital; Etiology; Genetic; Hydrocephalus; L1CAM

Indexed keywords

NERVE CELL ADHESION MOLECULE L1;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME ABERRATION; CLINICAL PRACTICE; CONGENITAL HYDROCEPHALUS; CONTROLLED STUDY; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HEMIFACIAL MICROSOMIA; HEREDITY; HUMAN; MAJOR CLINICAL STUDY; MALE; PEDIATRICIAN; PRESCHOOL CHILD; RETROSPECTIVE STUDY; SCHOOL CHILD; WALKER WARBURG SYNDROME; X CHROMOSOME LINKED DISORDER;

ABNORMALITIES, MULTIPLE; ARACHNODACTYLY; BLEPHAROPHIMOSIS; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CONNECTIVE TISSUE DISEASES; CONTRACTURE; DNA COPY NUMBER VARIATIONS; FEMALE; GENE DOSAGE; HUMANS; HYDROCEPHALUS; INFANT; KARYOTYPING; MALE; NETHERLANDS; NEURAL CELL ADHESION MOLECULE L1; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; RETROSPECTIVE STUDIES; SEVERITY OF ILLNESS INDEX; WALKER-WARBURG SYNDROME;

EID: 80052302428     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.06.005     Document Type: Article

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