Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome

European Journal of Human Genetics

Volumn 23, Issue 6, 2015, Pages 803-807

  Beunders, Gea ^a   De Munnik, Sonja A ^b   Van Der Aa, Nathalie ^c   Ceulemans, Berten ^c   Voorhoeve, Els ^a   Groffen, Alexander J ^a   Nillesen, Willy M ^b   Meijers Heijboer, Elizabeth J ^a   Frank Kooy, R ^c   Yntema, Helger G ^b   Sistermans, Erik A ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c ANTWERP UNIVERSITY HOSPITAL   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

MIXED LINEAGE LEUKEMIA PROTEIN; AUTS2 PROTEIN, HUMAN; PROTEIN;

ADULT; ARTICLE; AUTISM; AUTS2 GENE; AUTS2 SYNDROME; BODY DYSMORPHIC DISORDER; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; ELECTROENCEPHALOGRAPHY; ELECTROMYOGRAPHY; EVOKED VISUAL RESPONSE; EXON; FEEDING DIFFICULTY; GENE; GENE DELETION; GENETIC DISORDER; GENETIC VARIABILITY; HAPLOINSUFFICIENCY; HEAD CIRCUMFERENCE; HUMAN; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; LANGUAGE DELAY; LOW BIRTH WEIGHT; MALE; MICROCEPHALY; MISSENSE MUTATION; MUSCLE HYPERTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PREDICTION; PRIORITY JOURNAL; VALGUS DEFORMITY; YOUNG ADULT; FRAMESHIFT MUTATION; GENETIC POLYMORPHISM; GENETICS; INTELLECTUAL DISABILITY; SYNDROME;

EXONS; FRAMESHIFT MUTATION; GENE DELETION; HUMANS; INTELLECTUAL DISABILITY; MALE; MICROCEPHALY; PHENOTYPE; POLYMORPHISM, GENETIC; PROTEINS; SYNDROME; YOUNG ADULT;

EID: 84929263387     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.173     Document Type: Article

References (16)

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