Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability

American Journal of Human Genetics

Volumn 98, Issue 1, 2016, Pages 202-209

  Stray Pedersen, Asbjørg ^a,b   Cobben, Jan Maarten ^c   Prescott, Trine E ^b   Lee, Sora ^d   Cang, Chunlei ^d   Aranda, Kimberly ^d   Ahmed, Sohnee ^e   Alders, Marielle ^c   Gerstner, Thorsten ^f   Aslaksen, Kathinka ^g   Tétreault, Martine ^h   Qin, Wen ⁱ   Hartley, Taila ⁱ   Jhangiani, Shalini N ^a   Muzny, Donna M ^a   Tarailo Graovac, Maja ^j   Van Karnebeek, Clara D M ^j   Lupski, James R ^a,k   Ren, Dejian ^d   Yoon, Grace ^e  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b OSLO UNIVERSITY HOSPITAL   (Norway)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

^d UNIVERSITY OF PENNSYLVANIA   (United States)

^e HOSPITAL FOR SICK CHILDREN   (Canada)

^f Sørlandet Hospital   (Norway)

^g Sørlandet Hospital   (Norway)

^h MCGILL UNIVERSITY   (Canada)

ⁱ CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^j UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^k TEXAS CHILDREN S HOSPITAL   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ION CHANNEL; UNC80 PROTEIN; UNCLASSIFIED DRUG; CARRIER PROTEIN; MEMBRANE PROTEIN; UNC80 PROTEIN, HUMAN;

ADOLESCENT; ARTICLE; BRAIN DISEASE; CASE REPORT; CELLS; CHILD; CIRCADIAN RHYTHM; CONSTIPATION; EXON; FEMALE; GENE EXPRESSION; GENE FUNCTION; GENOTYPE PHENOTYPE CORRELATION; GROWTH RETARDATION; HETEROZYGOSITY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HUMAN GENOME; INFANTILE HYPOTONIA; INTELLECTUAL IMPAIRMENT; LOSS OF FUNCTION MUTATION; MEMBRANE STEADY POTENTIAL; MISSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; SLEEP DISORDER; SLEEP WAKING CYCLE; SPEECH DISORDER; ALLELE; GENETICS; GROWTH DISORDER; MUSCLE HYPOTONIA; MUTATION; SEVERITY OF ILLNESS INDEX;

ADOLESCENT; ALLELES; BRAIN DISEASES; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; FEMALE; GROWTH DISORDERS; HUMANS; INTELLECTUAL DISABILITY; MEMBRANE PROTEINS; MUSCLE HYPOTONIA; MUTATION; SEVERITY OF ILLNESS INDEX;

EID: 84954270776     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.11.004     Document Type: Article

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