A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects

Neurogenetics

Volumn 17, Issue 3, 2016, Pages 173-178

  Beck, David B ^a   Cho, Megan T ^b   Millan, Francisca ^b   Yates, Carin ^b   Hannibal, Mark ^c   O’Connor, Bridget ^c   Shinawi, Marwan ^d   Connolly, Anne M ^d   Waggoner, Darrel ^e   Halbach, Sara ^e   Angle, Brad ^f   Sanders, Victoria ^f   Shen, Yufeng ^a   Retterer, Kyle ^b   Begtrup, Amber ^b   Bai, Renkui ^b   Chung, Wendy K ^a  

^a Department of Medicine   (United States)

^b GENEDX   (United States)

^c UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^d WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e UNIVERSITY OF CHICAGO   (United States)

^f NORTHWESTERN UNIVERSITY   (United States)

Author keywords

Ataxia; Chromatin; CTBP1; Developmental delay; Enamel defects; Hypotonia; Whole exome sequencing

Indexed keywords

ASPARAGINE; C TERMINAL BINDING PROTEIN 1; CHROMATIN MODIFYING ENZYME; ENZYME; LEUCINE; PROLINE; SCAFFOLD PROTEIN; SERINE; UNCLASSIFIED DRUG; ALCOHOL DEHYDROGENASE; C-TERMINAL BINDING PROTEIN; DNA BINDING PROTEIN;

ADULT; ARTICLE; ATAXIA; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CHILD; DEVELOPMENTAL DISORDER; FAILURE TO THRIVE; FEMALE; GENE REPRESSION; GENETIC ASSOCIATION; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MISSENSE MUTATION; MUSCLE HYPOTONIA; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN PROTEIN INTERACTION; SCHOOL CHILD; SEQUENCE ANALYSIS; TOOTH DISEASE; WHOLE EXOME SEQUENCING; WOLF HIRSCHHORN SYNDROME; YOUNG ADULT; COMPLICATION; ENAMEL; GENETICS; PATHOLOGY;

ADULT; ALCOHOL OXIDOREDUCTASES; ATAXIA; CHILD; DENTAL ENAMEL; DEVELOPMENTAL DISABILITIES; DNA-BINDING PROTEINS; FEMALE; HUMANS; INTELLECTUAL DISABILITY; MALE; MUSCLE HYPOTONIA; MUTATION, MISSENSE; WHOLE EXOME SEQUENCING; YOUNG ADULT;

EID: 84964336348     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-016-0482-4     Document Type: Article

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