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Article

The TBR1-related autistic-spectrum-disorder phenotype and its clinical spectrum.

European journal of medical genetics - 1 May 2018

McDermott J H, Study D D D, Clayton-Smith J, Briggs T A

Abstract excerpt

A diverse range of genetic aberrations can lead to Autistic Spectrum Disorder (ASD) and many of these have been identified via Next Generation Sequencing (NGS) as part of large scale consortium studies. ASD is a phenotypically variable disorder and detailed clinical descriptions are essential to appreciate genotype-phenotype relationships. In this report, we provide a comprehensive clinical description of a child...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29288087
DOI: 10.1016/j.ejmg.2017.12.009

Genes

TBR1

Provenance

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