Whole-Exome Sequencing Identifies Three Candidate Homozygous Variants in a Consanguineous Iranian Family with Autism Spectrum Disorder and Skeletal Problems

Autism spectrum disorder (ASD) is characterized by 3 core symptoms with impaired social communication, repetitive behavior, and/or restricted interests in early childhood. As a complex neurodevelopmental disorder (NDD), the phenotype and severity of autism are extremely heterogeneous. Genetic factor...

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Detalhes bibliográficos
Publicado no:Mol Syndromol
Main Authors: Farajzadeh Valilou, Saeed, Alavi, Afagh, Pashaei, Mahdiyeh, Ghasemi Firouzabadi, Saghar, Shafeghati, Yousef, Nozari, Ahoura, Hadipour, Fatemeh, Hadipour, Zahra, Maghsoodlou Estrabadi, Bijan, Gholamreza Noorazar, Seyed, Banihashemi, Susan, Karimian, Javad, Fattahi, Mahshid, Behjati, Farkhondeh
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2020
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7325133/
https://ncbi.nlm.nih.gov/pubmed/32655337
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000506530
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