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Article

CMIP haploinsufficiency in two patients with autism spectrum disorder and co-occurring gastrointestinal issues.

American journal of medical genetics. Part A - 1 Aug 2017

Luo Minjie, Fan Jinbo, Wenger Tara L, Harr Margaret H, Racobaldo Melissa, Mulchandani Surabhi, Dubbs Holly, Zackai Elaine H, Spinner Nancy B, Conlin Laura K

Abstract excerpt

Autism spectrum disorder (ASD) is a genetically heterogeneous group of disorders characterized by impairments in social communication and restricted interests. Though some patients with ASD have an identifiable genetic cause, the cause of most ASD remains elusive. Many ASD susceptibility loci have been identified through clinical studies. We report two patients with syndromic ASD and persistent gastrointestinal...

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Topics

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Share to Adaptor Proteins, Signal Transducing
Share to Autism Spectrum Disorder

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Developmental Disabilities

Share to Gastrointestinal Diseases

Share to Haploinsufficiency

Share to In Situ Hybridization, Fluorescence

Share to Sequence Deletion

Source

Identifiers

PMID: 28504353
DOI: 10.1002/ajmg.a.38277

Genes

CMIP

Provenance

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