A Novel PTRH2 Gene Mutation Causing Infantile-onset Multisystem Neurologic, Endocrine, and Pancreatic Disease in a Bahraini Patient
Infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) is a rare autosomal recessive multisystemic disease with a prevalence of < 1/1 000 000. The wide spectrum of symptoms and associated diseases makes the diagnosis of this disease particularly challenging. Here, we r...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Oman Medical Specialty Board
2024-01-01
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| Series: | Oman Medical Journal |
| Subjects: | |
| Online Access: | https://omjournal.org/articleDetails.aspx?coType=1&aId=3624 |