Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

European Journal of Human Genetics

Volumn 23, Issue 11, 2015, Pages 1482-1487

  Bronicki, Lucas M ^a   Redin, Claire ^b   Drunat, Severine ^c   Piton, Amélie ^b,d   Lyons, Michael ^a   Passemard, Sandrine ^c   Baumann, Clarisse ^c   Faivre, Laurence ^e,f   Thevenon, Julien ^e,f   Rivi're, Jean Baptiste ^e,f   Isidor, Bertrand ^g   Gan, Grace ^b   Francannet, Christine ^h   Willems, Marjolaine ⁱ   Gunel, Murat ^j   Jones, Julie R ^a   Gleeson, Joseph G ^k   Mandel, Jean Louis ^b,d   Stevenson, Roger E ^a   Friez, Michael J ^a   Aylsworth, Arthur S ^l   more..

^a GREENWOOD GENETIC CENTER   (United States)

^b UNIVERSITÉ DE STRASBOURG   (France)

^c HÔPITAL ROBERT DEBRÉ   (France)

^d UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^e DIJON UNIVERSITY HOSPITAL   (France)

^f UNIVERSITÉ DE BOURGOGNE   (France)

^g NANTES UNIVERSITY HOSPITAL   (France)

^h UNIVERSITY HOSPITAL OF CLERMONT FERRAND   (France)

ⁱ HÔPITAL ARNAUD DE VILLENEUVE   (France)

^j YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^k UNIVERSITY OF CALIFORNIA   (United States)

^l UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DOWN SYNDROME CRITICAL REGION PROTEIN 3; DOWN SYNDROME CRITICAL REGION PROTEIN 4; DOWN SYNDROME CRITICAL REGION PROTEIN 8; DUAL SPECIFICITY TYROSINE PHOSPHORYLATION REGULATED KINASE 1A; HOLOCARBOXYLASE SYNTHETASE; PIGP PROTEIN; POTASSIUM CHANNEL; POTASSIUM CHANNEL INWARDLY RECTIFYING SUBFAMILY J MEMBER 15; POTASSIUM CHANNEL INWARDLY RECTIFYING SUBFAMILY J MEMBER 6; PROTEIN; PROTEIN TYROSINE KINASE; RIPPLY TRANSCRIPTIONAL REPRESSOR 3; SINGLE MINDED HOMOLOG 2; TETRATRICOPEPTIDE REPEAT DOMAIN 3; TRANSCRIPTION FACTOR ERG; UNCLASSIFIED DRUG; DYRK KINASE; PROTEIN SERINE THREONINE KINASE;

ABSENCE; ACQUIRED MICROCEPHALY; ADOLESCENT; ADULT; ARTICLE; AUTISM; CHILD; CHROMOSOME DELETION; CLINICAL ARTICLE; CLINICAL FEATURE; COMPARATIVE STUDY; CONTROLLED STUDY; DISEASE SEVERITY; DIVERGENT STRABISMUS; ENZYME ACTIVE SITE; FEEDING DIFFICULTY; FEEDING DISORDER; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENOTYPE; HETEROZYGOTE; HUMAN; HYPERMETROPIA; INTELLECTUAL IMPAIRMENT; LOW BIRTH WEIGHT; MALE; MICROCEPHALY; MICROGNATHIA; MISSENSE MUTATION; MOTOR DYSFUNCTION; MYOPIA; NONSENSE MUTATION; PHENOTYPE; POSTNATAL GROWTH; PRENATAL GROWTH; PRESCHOOL CHILD; PRIMARY MICROCEPHALY; PRIORITY JOURNAL; RECURRENT DISEASE; SCANTY HAIR; SCHOOL CHILD; SEIZURE; SHORT STATURE; SPEECH DELAY; WEIGHT GAIN; CASE REPORT; CHROMOSOME 21; DOWN SYNDROME; GENETICS; MUTATION; PATHOPHYSIOLOGY;

ADOLESCENT; ADULT; AUTISTIC DISORDER; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 21; DOWN SYNDROME; FEMALE; HUMANS; INTELLECTUAL DISABILITY; MALE; MICROCEPHALY; MUTATION; PHENOTYPE; PROTEIN-SERINE-THREONINE KINASES; PROTEIN-TYROSINE KINASES;

EID: 84944351589     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.29     Document Type: Article

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