Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus

Journal of Medical Genetics

Volumn 49, Issue 11, 2012, Pages 708-712

  Drielsma, Anais ^a,b   Jalas, Chaim ^c   Simonis, Nicolas ^a   Désir, Julie ^b   Simanovsky, Natalia ^d   Pirson, Isabelle ^a   Abramowicz, Marc ^b   Edvardson, Simon ^d  

^a UNIVERSITÉ LIBRE DE BRUXELLES   (Belgium)

^b ERASME HOSPITAL   (Belgium)

^c Bonei Olam Center for Rare Jewish Diseases   (United States)

^d HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

COILED COIL DOMAIN CONTAINING 88C; DISHEVELLED ASSOCIATING PROTEIN WITH A HIGH FREQUENCY OF LEUCINE RESIDUE; DISHEVELLED PROTEIN; DROSOPHILA DISC LARGE TUMOR SUPPRESSOR 1; POST SYNAPTIC DENSITY PROTEIN 95; PROTEIN ZO1; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CARBOXY TERMINAL SEQUENCE; CHILD; CLINICAL ARTICLE; CODON; CONGENITAL HYDROCEPHALUS; EXOME; EXON; FEMALE; FRAMESHIFT MUTATION; GENE MAPPING; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; INFANT; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN MOTIF; SCHOOL CHILD;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; EXONS; FEMALE; FRAMESHIFT MUTATION; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; HYDROCEPHALUS; INFANT; MALE; MICROFILAMENT PROTEINS; PDZ DOMAINS; PEDIGREE; PROTEIN BINDING; SEQUENCE ANALYSIS, DNA;

EID: 84870301789     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2012-101190     Document Type: Article

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