A Homozygous Truncating Mutation in NALCN Causing IHPRF1: Detailed Clinical Manifestations and a Review of Literature

A Homozygous Truncating Mutation in NALCN Causing IHPRF1: Detailed Clinical Manifestations and a Review of Literature

Amir Hossein Karimi,1 Mohammad Reza Karimi,1 Poopak Farnia,2,3 Farshid Parvini,1 Majid Foroutan4 1Department of Biology, Faculty of Basic Sciences, Semnan University, Semnan, Iran; 2Mycobacteriology Research Centre (MRC), National Research Institute of Tuberculosis and Lung Disease (NRITLD), Shahid...

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Bibliographic Details
Main Authors: Karimi AH, Karimi MR, Farnia P, Parvini F, Foroutan M
Format: Article
Language:English
Published: Dove Medical Press 2020-08-01
Series:The Application of Clinical Genetics
Subjects:
global developmental delay
dysmorphism
intellectual disability
motor retardation
cognitive delay.
Online Access:https://www.dovepress.com/a-homozygous-truncating-mutation-in-nalcn-causing-ihprf1-detailed-clin-peer-reviewed-article-TACG

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https://www.dovepress.com/a-homozygous-truncating-mutation-in-nalcn-causing-ihprf1-detailed-clin-peer-reviewed-article-TACG

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