טוען...
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...
שמור ב:
| הוצא לאור ב: | Appl Clin Genet |
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| Main Authors: | , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Dove
2020
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7459142/ https://ncbi.nlm.nih.gov/pubmed/32943903 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/TACG.S261781 |
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