Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability

Journal of Medical Genetics

Volumn 55, Issue 1, 2018, Pages 28-38

  Hamilton, Mark J ^a,b   Caswell, Richard C ^c   Canham, Natalie ^d   Cole, Trevor ^e   Firth, Helen V ^f,g   Foulds, Nicola ^h   Heimdal, Ketil ⁱ   Hobson, Emma ^j   Houge, Gunnar ^k   Joss, Shelagh ^a   Kumar, Dhavendra ^l   Lampe, Anne Katrin ^m   Maystadt, Isabelle ⁿ   McKay, Victoria ^o   Metcalfe, Kay ^p   Newbury Ecob, Ruth ^q   Park, Soo Mi ^f   Robert, Leema ^r   Rustad, Cecilie F ⁱ   Wakeling, Emma ^d   Wilkie, Andrew O M ^s   Twigg, Stephen R F ^s   Suri, Mohnish ^b   more..

^a QUEEN ELIZABETH UNIVERSITY HOSPITAL   (United Kingdom)

^b NOTTINGHAM UNIVERSITY HOSPITALS NHS TRUST   (United Kingdom)

^c UNIVERSITY OF EXETER MEDICAL SCHOOL   (United Kingdom)

^d NATIONAL HEALTH SERVICE   (United Kingdom)

^e BIRMINGHAM CHILDREN S HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

^f CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^g WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^h UNIVERSITY HOSPITAL SOUTHAMPTON NHS FOUNDATION TRUST   (United Kingdom)

ⁱ OSLO UNIVERSITY HOSPITAL   (Norway)

^j LEEDS TEACHING HOSPITALS NHS TRUST   (United Kingdom)

^k HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^l UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^m WESTERN GENERAL HOSPITAL   (United Kingdom)

ⁿ Institute of Pathology and Genetics Gosselies   (Belgium)

^o LIVERPOOL WOMEN'S NHS FOUNDATION TRUST   (United Kingdom)

^p ST MARY S HOSPITAL   (United Kingdom)

^q UNIVERSITY HOSPITALS BRISTOL NHS FOUNDATION TRUST   (United Kingdom)

^r GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^s UNIVERSITY OF OXFORD   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ASPARAGINE; COMPLEMENTARY DNA; CYCLIN DEPENDENT KINASE; CYCLIN DEPENDENT KINASE 13; CYCLIN K; CYCLINE; GLYCINE; SERINE; UNCLASSIFIED DRUG; CDK13 PROTEIN, HUMAN; CYCLIN DEPENDENT KINASE 1;

ADOLESCENT; ALTERNATIVE RNA SPLICING; ARTICLE; AUTISM; BINDING AFFINITY; BINDING SITE; BRAIN HEMANGIOMA; CENTRAL SLEEP APNEA SYNDROME; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CLINODACTYLY; COHORT ANALYSIS; COMPARATIVE STUDY; CONSTIPATION; CORPUS CALLOSUM; CRANIOFACIAL MALFORMATION; DEVELOPMENTAL DELAY; EAR MALFORMATION; ENZYME ACTIVE SITE; EPICANTHUS; FEEDING DIFFICULTY; FEMALE; FINGER MALFORMATION; GASTROESOPHAGEAL REFLUX; GASTROINTESTINAL INFECTION; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENETIC CONSERVATION; GENETIC VARIATION; HEART ATRIUM SEPTUM DEFECT; HEART DISEASE; HEART VENTRICLE SEPTUM DEFECT; HETEROZYGOTE; HIGH FREQUENCY HEARING LOSS; HUMAN; HYDROGEN BOND; HYPERTELORISM; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; JOINT LAXITY; LEARNING DISORDER; LIGAND BINDING; LOSS OF FUNCTION MUTATION; MALE; MEDICAL GENETICS; MISSENSE MUTATION; MOUTH MALFORMATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OPEN READING FRAME; PALPEBRAL FISSURE ANOMALY; PERCEPTION DEAFNESS; PRIORITY JOURNAL; PROTEIN DATABASE; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN STABILITY; SANGER SEQUENCING; SEIZURE; TELECANTHUS; UPPER LIP; UPPER RESPIRATORY TRACT INFECTION; WHOLE EXOME SEQUENCING; CHEMISTRY; CONSERVED SEQUENCE; DEVELOPMENTAL DISORDER; GENETICS; MOLECULAR MODEL; MUTATION; SYNDROME; THERMODYNAMICS;

ADOLESCENT; CDC2 PROTEIN KINASE; CHILD; CONSERVED SEQUENCE; DEVELOPMENTAL DISABILITIES; FEMALE; HETEROZYGOTE; HUMANS; INTELLECTUAL DISABILITY; MALE; MODELS, MOLECULAR; MUTATION; MUTATION, MISSENSE; PROTEIN DOMAINS; SYNDROME; THERMODYNAMICS;

EID: 85041698967     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2017-104620     Document Type: Article

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