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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Dades bibliogràfiques
Publicat a:Mol Syndromol
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: S. Karger AG 2020
Matèries:
Original Article
Accés en línia: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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