De novo mutations in HNRNPU result in a neurodevelopmental syndrome

American Journal of Medical Genetics, Part A

Volumn 173, Issue 11, 2017, Pages 3003-3012

  Yates, T Michael ^a   Vasudevan, Pradeep C ^b   Chandler, Kate E ^c   Donnelly, Deirdre E ^d   Stark, Zornitza ^e   Sadedin, Simon ^e,f   Willoughby, Josh ^a   Balasubramanian, Meena ^a  

^a SHEFFIELD CHILDREN'S NHS FOUNDATION TRUST   (United Kingdom)

^b UNIVERSITY HOSPITALS OF LEICESTER NHS TRUST   (United Kingdom)

^c ROYAL GROUP OF HOSPITALS TRUST   (United Kingdom)

^d ST MARY S HOSPITAL   (United Kingdom)

^e MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^f BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^g WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

Author keywords

aggressive outbursts; behavior; HNRNPU; intellectual disability; seizures; trio exome sequencing

Indexed keywords

ARTICLE; CLINICAL ARTICLE; DEVELOPMENTAL DELAY; DISEASE SEVERITY; FACE DYSMORPHIA; FEMALE; FEVER; GENE; GENE DELETION; GENE MUTATION; GENETIC ASSOCIATION; HAPLOINSUFFICIENCY; HETEROZYGOTE; HNRNPU GENE; HUMAN; INTELLECTUAL IMPAIRMENT; LOSS OF FUNCTION MUTATION; MALE; MENTAL DISEASE; NEURODEVELOPMENTAL SYNDROME; PHENOTYPE; PRIORITY JOURNAL; SEIZURE; WHOLE EXOME SEQUENCING; ADOLESCENT; ADULT; CHILD; DEVELOPMENTAL DISORDER; EXOME; GENETIC PREDISPOSITION; GENETICS; INFANT; MUTATION; PATHOPHYSIOLOGY; PRESCHOOL CHILD; YOUNG ADULT;

HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN U; SAF-A PROTEIN, HUMAN;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; EXOME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HAPLOINSUFFICIENCY; HETEROGENEOUS-NUCLEAR RIBONUCLEOPROTEIN U; HETEROZYGOTE; HUMANS; INFANT; INTELLECTUAL DISABILITY; MALE; MUTATION; NEURODEVELOPMENTAL DISORDERS; PHENOTYPE; SEIZURES; YOUNG ADULT;

EID: 85030183203     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.38492     Document Type: Article

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