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Article

A novel variant of C12orf4 linked to autosomal recessive intellectual disability type 66 with phenotype expansion.

The journal of gene medicine - 1 Apr 2022

Rashvand Zahra, Kahrizi Kimia, Najmabadi Hossein, Najafipour Reza, Omrani Mir Davood

Abstract excerpt

BACKGROUND: Intellectual disability (ID) is a hallmark of many rare disorders that are highly heterogeneous and complex. A large number of specific genes are involved in development of this heterogeneity, and each of these genes is only found in a small number of patients. This weakens the definition of the predominant genotype and the phenotypic characteristics associated with that gene. Autosomal recessive ID...

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PMID: 34967075
DOI: 10.1002/jgm.3406

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