Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia

American Journal of Human Genetics

Volumn 98, Issue 4, 2016, Pages 782-788

  Bhoj, Elizabeth J ^a   Li, Dong ^a   Harr, Margaret ^a   Edvardson, Shimon ^b   Elpeleg, Orly ^b   Chisholm, Elizabeth ^c   Juusola, Jane ^d   Douglas, Ganka ^d   Guillen Sacoto, Maria J ^d   Siquier Pernet, Karine ^e   Saadi, Abdelkrim ^f   Bole Feysot, Christine ^e   Nitschke, Patrick ^g   Narravula, Alekhya ^h   Walke, Maria ⁱ   Horner, Michele B ^j   Day Salvatore, Debra Lynn ^j   Jayakar, Parul ⁱ   Vergano, Samantha A Schrier ^c   Tarnopolsky, Mark A ^k   Hegde, Madhuri ^h   Colleaux, Laurence ^e   Crino, Peter ^l   Hakonarson, Hakon ^a   more..

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^c CHILDREN S HOSPITAL OF THE KING S DAUGHTERS   (United States)

^d GENEDX   (United States)

^e IMAGINE INSTITUTE   (France)

^f Ben Aknoun Hospital   (Algeria)

^g UNIVERSITÉ PARIS DESCARTES   (France)

^h EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

ⁱ NICKLAUS CHILDREN S HOSPITAL   (United States)

^j SAINT PETER S UNIVERSITY HOSPITAL   (United States)

^k MCMASTER UNIVERSITY MEDICAL CENTRE   (Canada)

^l TEMPLE UNIVERSITY SCHOOL OF MEDICINE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

LEUCINE; MAMMALIAN TARGET OF RAPAMYCIN; PHOSPHOTRANSFERASE; PROTEIN S6; TBC1 DOMAIN CONTAINING KINASE; UNCLASSIFIED DRUG; MTOR PROTEIN, HUMAN; PROTEIN SERINE THREONINE KINASE; TARGET OF RAPAMYCIN KINASE; TBCK PROTEIN, HUMAN;

ADIPOGENESIS; ADRENAL INSUFFICIENCY; ARTICLE; BILATERAL HEARING LOSS; BRAIN ATROPHY; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CORNEA DISEASE; DIABETES CONTROL; DOWN REGULATION; EXOME; FACE DYSMORPHIA; FACE MALFORMATION; FEMALE; GENE MUTATION; GENETIC VARIABILITY; GROWTH HORMONE DEFICIENCY; HUMAN; HYPERTHYROIDISM; HYPOTHYROIDISM; IMMUNE DEFICIENCY; INTELLECTUAL IMPAIRMENT; MALE; MISSENSE MUTATION; MOLECULAR PATHOLOGY; MULTICENTER STUDY; MUSCLE HYPOTONIA; MUSCLE MASS; NEUROIMAGING; PATHOGENESIS; PERNICIOUS ANEMIA; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; SCHOOL CHILD; SCOLIOSIS; SEIZURE; SEQUENCE ANALYSIS; SIGNAL TRANSDUCTION; SUPPLEMENTATION; WHITE MATTER LESION; ALLELE; ANCESTRY GROUP; GENETIC VARIATION; GENETICS; INTELLECTUAL DISABILITY; METABOLISM; MUTATION;

ALLELES; CHILD; CHILD, PRESCHOOL; CONTINENTAL POPULATION GROUPS; FEMALE; GENETIC VARIATION; HUMANS; INTELLECTUAL DISABILITY; MALE; MUSCLE HYPOTONIA; MUTATION; PROTEIN-SERINE-THREONINE KINASES; SIGNAL TRANSDUCTION; TOR SERINE-THREONINE KINASES;

EID: 84962109845     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2016.03.016     Document Type: Article

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