DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

European Journal of Human Genetics

Volumn 23, Issue 11, 2015, Pages 1473-1481

  Ji, Jianling ^a,b   Lee, Hane ^a,b   Argiropoulos, Bob ^c   Dorrani, Naghmeh ^a,b   Mann, John ^d   Martinez Agosto, Julian A ^a,b   Gomez Ospina, Natalia ^e   Gallant, Natalie ^a   Bernstein, Jonathan A ^e   Hudgins, Louanne ^e   Slattery, Leah ^e   Isidor, Bertrand ^f   Le Caignec, Cédric ^f   David, Albert ^f   Obersztyn, Ewa ^g   Wis̈niowiecka Kowalnik, Barbara ^g   Fox, Michelle ^a,b   Deignan, Joshua L ^a,b   Vilain, Eric ^a,b   Hendricks, Emily ^h   Harr, Margaret Horton ⁱ   Noon, Sarah E ⁱ   Jackson, Jessi R ⁱ   Wilkens, Alisha ⁱ   Mirzaa, Ghayda ^h   Salamon, Noriko ^a   Abramson, Jeff ^a,j   Zackai, Elaine H ⁱ   Krantz, Ian ⁱ   Innes, A Micheil ^c   Nelson, Stanley F ^a,b   Grody, Wayne W ^a,b   Quintero Rivera, Fabiola ^a,b   more..

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF CALGARY   (Canada)

^d KAISER PERMANENTE   (United States)

^e STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f NANTES UNIVERSITY HOSPITAL   (France)

^g INSTITUTE OF MOTHER AND CHILD   (Poland)

^h SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

ⁱ CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^j TATA INSTITUTE OF FUNDAMENTAL RESEARCH   (India)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DUAL SPECIFICITY TYROSINE Y PHOSPHORYLATION REGULATED KINASE 1A; NUCLEAR PROTEIN; UNCLASSIFIED DRUG; DYRK KINASE; PROTEIN SERINE THREONINE KINASE; PROTEIN TYROSINE KINASE;

ARTICLE; ATAXIA; BIRTH; CHILD; CHROMOSOME 21Q; CLINICAL ARTICLE; CRYSTAL STRUCTURE; EYE MALFORMATION; FACIES; FEEDING DIFFICULTY; FEMALE; GAIT DISORDER; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HAPLOINSUFFICIENCY; HAPPY PUPPET SYNDROME; HETEROZYGOTE; HUMAN; INDEL MUTATION; INTELLECTUAL IMPAIRMENT; INTRAUTERINE GROWTH RETARDATION; MALE; MICROCEPHALY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; SHORT STATURE; SKELETON MALFORMATION; SPEECH DELAY; SPEECH DISORDER; CHROMOSOME DELETION; DOWN SYNDROME; GENETICS; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY; PATHOPHYSIOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM;

ABNORMALITIES, MULTIPLE; CHROMOSOME DELETION; DOWN SYNDROME; FACIES; FEMALE; HAPLOINSUFFICIENCY; HUMANS; INTELLECTUAL DISABILITY; MALE; MICROCEPHALY; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN-SERINE-THREONINE KINASES; PROTEIN-TYROSINE KINASES;

EID: 84944356467     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.71     Document Type: Article

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