Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy

American Journal of Medical Genetics, Part A

Volumn 170, Issue 6, 2016, Pages 1502-1509

  Evers, Christina ^a   Kaufmann, Lilian ^a   Seitz, Angelika ^b   Paramasivam, Nagarajan ^c,d   Granzow, Martin ^a   Karch, Stephanie ^b   Fischer, Christine ^a   Hinderhofer, Katrin ^a   Gdynia, Georg ^a,c   Elsässer, Michael ^b   Pinkert, Stefan ^c   Schlesner, Matthias ^c   Bartram, Claus R ^a   Moog, Ute ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^c GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^d UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

Ataxia; Cerebellar atrophy; Cerebellar hypoplasia; CWF19L1; Developmental delay; Intellectual disability

Indexed keywords

CELL PROTEIN; PROTEIN C19L1; UNCLASSIFIED DRUG; CELL CYCLE PROTEIN; CWF19-LIKE 1, CELL CYCLE CONTROL (S. POMBE), HUMAN;

ARTICLE; ATAXIC GAIT; CASE REPORT; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CHILD; CLINICAL FEATURE; COGNITIVE DEFECT; CORPUS CALLOSUM AGENESIS; CWF19L1 GENE; DYSARTHRIA; DYSMETRIA; EXOME; FEMALE; FETUS; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC CONSERVATION; GENETIC VARIABILITY; GESTATIONAL AGE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; INTELLECTUAL IMPAIRMENT; LANGUAGE DELAY; LINKAGE ANALYSIS; LOSS OF FUNCTION MUTATION; LYMPHOBLASTOID CELL LINE; MALE; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; POSTHUMOUS CARE; PREGNANCY TERMINATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; RNA ANALYSIS; SANGER SEQUENCING; SCHOOL CHILD; SCORING SYSTEM; SEQUENCE ANALYSIS; TREMOR; TURK (PEOPLE); ABNORMALITIES; BRAIN; CEREBELLUM; COMPARATIVE GENOMIC HYBRIDIZATION; CONSANGUINITY; DEVELOPMENTAL DISABILITIES; GENETIC ASSOCIATION STUDY; GENETIC LINKAGE; GENETICS; HIGH THROUGHPUT SEQUENCING; INTELLECTUAL DISABILITY; MUTATION; NERVOUS SYSTEM MALFORMATIONS; PEDIGREE; PHENOTYPE; RADIOGRAPHY; SINGLE NUCLEOTIDE POLYMORPHISM;

BRAIN; CELL CYCLE PROTEINS; CEREBELLUM; CHILD; COMPARATIVE GENOMIC HYBRIDIZATION; CONSANGUINITY; DEVELOPMENTAL DISABILITIES; EXOME; GENETIC ASSOCIATION STUDIES; GENETIC LINKAGE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INTELLECTUAL DISABILITY; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; NERVOUS SYSTEM MALFORMATIONS; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; RADIOGRAPHY;

EID: 84961645083     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37632     Document Type: Article

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