Proband‐Only Exome Sequencing for Intellectual Disability in Iran: Diagnostic Yield and Genetic Insights

ABSTRACT Intellectual disability (ID) is a leading cause for referral to genetic services, with the most severe cases typically attributed to single genetic defects. This study aimed to evaluate the diagnostic yield of cost‐effective proband‐only exome sequencing for individuals diagnosed with ID wi...

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Vydáno v:	American journal of medical genetics. Part A Ročník 197; číslo 4; s. e63915 - n/a
Hlavní autoři:	Ghalamkari, Safoura, Mianesaz, Hamidreza, Chitsaz, Ahmad, Ghazavi, Mohammadreza, Salehi, Mansoor
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	Hoboken, USA John Wiley & Sons, Inc 01.04.2025 Wiley Subscription Services, Inc
Témata:	Adolescent Adult Child Child, Preschool Consanguinity Copy number DNA Copy Number Variations - genetics Exome - genetics Exome Sequencing - methods Female Genetic Predisposition to Disease Genetic Testing Genetics Humans Intellectual disabilities intellectual disability Intellectual Disability - diagnosis Intellectual Disability - epidemiology Intellectual Disability - genetics Intellectual Disability - pathology Iran - epidemiology Iranian population Male proband‐only exome sequencing Whole genome sequencing Iran intellectual disability Iranian population proband‐only exome sequencing
ISSN:	1552-4825, 1552-4833, 1552-4833
On-line přístup:	Získat plný text
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