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Paper Details

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
Eur J Hum Genet
87
2015
21q22, 21q22.12q22, Angelman syndrome, DYRK1A, DYRK1A SNVs, DYRK1A gene, DYRK1A haploinsufficiency, Down syndrome, Dual-specificity tyrosine-(Y)-phosphorylation-regulated kinase 1 A, SNVs, Seizures, ataxia, broad-based gait, chromosome 21q22.12q22, congenital microcephaly, developmental delay, distinct facies, eye defects, facial features, haploinsufficiency of DYRK1A, highly conserved gene, intellectual disability, intrauterine growth restriction, microcephaly, neuronal, short stature, single-nucleotide variants, skeletal abnormalities, speech impairment, structural brain abnormalities, tyrosine
Author NameAffiliation
Jianling JiDavid Geffen School of Medicine at University of California Los Angeles
Jianling Jiuniversity of california los angeles Clinical Genomics Center
Jonathan A BernsteinStanford University School of Medicine
Margaret HarrChildren's Hospital of Philadelphia
Ghayda M MirzaaSeattle Children's Research Institute
Noriko SalamonDavid Geffen School of Medicine at University of California Los Angeles
Noriko SalamonDavid Geffen School of Medicine at University of California Los Angeles
Jeff AbramsonDavid Geffen School of Medicine at University of California los angeles
Jeff AbramsonThe Institute for Stem Cell Biology and Regenerative Medicine (inStem), National Centre for Biological Sciences-Tata Institute of Fundamental Research
Elaine H ZackaiChildren's Hospital of Philadelphia
Ian D KrantzChildren's Hospital of Philadelphia
Stanley F NelsonDavid Geffen School of Medicine at University of California Los Angeles
Stanley F NelsonDavid Geffen School of Medicine at University of California Los Angeles
Stanley F NelsonDavid Geffen School of Medicine at University of California Los Angeles
Stanley F Nelsonuniversity of california los angeles Clinical Genomics Center
Stanley F NelsonDavid Geffen School of Medicine at University of California Los Angeles
Stanley F Nelsonuniversity of california los angeles Clinical Genomics Center
Stanley F NelsonDavid Geffen School of Medicine at University of California Los Angeles
Stanley F NelsonDavid Geffen School of Medicine at University of California Los Angeles
Wayne W GrodyDavid Geffen School of Medicine at University of California Los Angeles
Wayne W Grodyuniversity of california los angeles Clinical Genomics Center
Wayne W GrodyDavid Geffen School of Medicine at University of California Los Angeles
Wayne W GrodyDavid Geffen School of Medicine at University of California Los Angeles
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