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

Infantile hypotonia, with psychomotor retardation and characteristic facies 1 (IHPRF1), is a rare disorder characterized by global developmental delay and dysmorphic features. This syndrome is caused by genetic anomalies within the NALCN gene. The current report examines a 9-year-old female IHPRF1 p...

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Detalles Bibliográficos
Autores principales: Karimi, Amir Hossein, Karimi, Mohammad Reza, Farnia, Poopak, Parvini, Farshid, Foroutan, Majid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7459142/
https://www.ncbi.nlm.nih.gov/pubmed/32943903
http://dx.doi.org/10.2147/TACG.S261781

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7459142/
https://www.ncbi.nlm.nih.gov/pubmed/32943903
http://dx.doi.org/10.2147/TACG.S261781

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