Extending and outlining the genotypic and phenotypic spectrum of novel mutations of NALCN gene in IHPRF1 syndrome: identifying recurrent urinary tract infection
Authors:
- Sahand Tehrani FatehSFSahand Tehrani Fateh
- Saman BagheriSBSaman Bagheri
- Hossein SadeghiHSHossein Sadeghi
- Shadab SalehpourSSShadab Salehpour
- Seyed Hassan TonekaboniSTSeyed Hassan Tonekaboni
- Reza MirfakhraieRMReza Mirfakhraie
- Mohammad MiryounesiMMMohammad Miryounesi
- Mohammad-Reza GhasemiMGMohammad-Reza Ghasemi
- 15 July 2023
- journal article
- research article
- Published by Springer Nature in Neurological Sciences
- Vol. 44 (12) , 4491-4498
Abstract
Infantile hypotonia with psychomotor retardation and characteristic facies 1 (IHPRF1) is caused by biallelic mutations in the NALCN gene, the major ion chaKeywords
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