Germline mosaic transmission of a novel duplication of PXDN and MYT1L to two male half-siblings with autism

Psychiatric Genetics

Volumn 22, Issue 3, 2012, Pages 137-140

  Meyer, Kacie J ^a   Axelsen, Michael S ^a   Sheffield, Val C ^a,b   Patil, Shivanand R ^a   Wassink, Thomas H ^a  

^a UNIVERSITY OF IOWA   (United States)

^b UNIVERSITY OF IOWA   (United States)

Author keywords

Autistic disorder; DNA copy number variations; genetics; mosaicism; MYT1L

Indexed keywords

NUCLEIC ACID BINDING PROTEIN; PROTEIN MYT1L; PROTEIN PXDN; UNCLASSIFIED DRUG;

ARTICLE; AUTISM; CASE REPORT; CHROMOSOME 2P; CHROMOSOME 2P25.3; CHROMOSOME DUPLICATION; COPY NUMBER VARIATION; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; LYMPHOBLAST; MALE; MOSAICISM; PRIORITY JOURNAL; SIBLING;

AUTISTIC DISORDER; CHROMOSOMES, HUMAN, PAIR 2; GENE DUPLICATION; GERM-LINE MUTATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MOSAICISM; NERVE TISSUE PROTEINS; TRANSCRIPTION FACTORS;

EID: 84860306100     PISSN: 09558829     EISSN: 14735873     Source Type: Journal    
DOI: 10.1097/YPG.0b013e32834dc3f5     Document Type: Article

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