Expanding the phenotypic spectrum of L1CAM-associated disease.

Basel-Vanagaite, L; Straussberg, R; Friez, M J; Inbar, D; Korenreich, L; Shohat, M; Schwartz, C E

Basel-Vanagaite, L; Straussberg, R; Friez, M J; Inbar, D; Korenreich, L; Shohat, M; Schwartz, C E.

Affiliation

Basel-Vanagaite L; Department of Medical Genetics, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel. basel@post.tau.ac.il

Clin Genet ; 69(5): 414-9, 2006 May.

Article in En | MEDLINE | ID: mdl-16650080

Subject(s)

Agenesis of Corpus Callosum; Hirschsprung Disease/diagnosis; Neural Cell Adhesion Molecule L1/genetics; Radius/abnormalities; Adolescent; Child; Child, Preschool; DNA Mutational Analysis; Elbow Joint/abnormalities; Elbow Joint/diagnostic imaging; Hirschsprung Disease/genetics; Humans; Infant; Joint Dislocations/congenital; Joint Dislocations/diagnostic imaging; Male; Mutation, Missense; Pedigree; Phenotype; Radiography; Radius/diagnostic imaging

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Collection: 01-internacional Database: MEDLINE Main subject: Radius / Neural Cell Adhesion Molecule L1 / Agenesis of Corpus Callosum / Hirschsprung Disease Type of study: Diagnostic_studies / Risk_factors_studies Limits: Adolescent / Child / Child, preschool / Humans / Infant / Male Language: En Journal: Clin Genet Year: 2006 Type: Article Affiliation country: Israel

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