Truncation of the Down Syndrome Candidate Gene DYRK1A in Two Unrelated Patients with Microcephaly

American Journal of Human Genetics

Volumn 82, Issue 5, 2008, Pages 1165-1170

  Møller, Rikke S ^a,b   Kübart, Sabine ^c   Hoeltzenbein, Maria ^c   Heye, Babett ^d   Vogel, Ida ^e   Hansen, Christian P ^b   Menzel, Corinna ^c   Ullmann, Reinhard ^c   Tommerup, Niels ^a   Ropers, Hans Hilger ^c   Tümer, Zeynep ^a   Kalscheuer, Vera M ^c  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b DANISH EPILEPSY CENTRE   (Denmark)

^c MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^d UNIVERSITY OF MUNICH   (Germany)

^e AARHUS UNIVERSITY HOSPITAL   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

DUAL SPECIFICITY TYROSINE PHOSPHORYLATION REGULATED KINASE 1A; PHOSPHOTRANSFERASE;

ARTICLE; BRAIN RADIOGRAPHY; CASE REPORT; CHILD; CHROMOSOME 21Q; CHROMOSOME ANALYSIS; CHROMOSOME TRANSLOCATION; CLINICAL EXAMINATION; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; EPILEPSY; FEBRILE CONVULSION; FEEDING DISORDER; FEMALE; GENE LOCATION; GENE MUTATION; HUMAN; INTRAUTERINE GROWTH RETARDATION; LABORATORY TEST; MALE; MICROCEPHALY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FAMILY;

CHILD; CHROMOSOMES, HUMAN, PAIR 21; DOWN SYNDROME; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; MALE; MICROCEPHALY; MUTATION; PHENOTYPE; PROTEIN-SERINE-THREONINE KINASES; PROTEIN-TYROSINE KINASES;

ANIMALIA;

EID: 43049162678     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2008.03.001     Document Type: Article

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