A Novel PTRH2 Gene Mutation Causing Infantile-onset Multisystem Neurologic, Endocrine, and Pancreatic Disease in a Bahraini Patient

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...

Full description

Bibliographic Details
Main Authors: Hasan M. Isa, Sara D. Khalaf, Sara Janahi, Mohamed M. Naser, Noor Al Hamad, Hasan Alhaddar, Maryam Busehail
Format: Article
Language:English
Published: Oman Medical Specialty Board 2024-01-01
Series:Oman Medical Journal
Subjects:
child
intellectual disability
hearing loss
sensorineural
diabetes mellitus
pancreatic diseases
mutation
Online Access:https://omjournal.org/articleDetails.aspx?coType=1&aId=3624

Internet

https://omjournal.org/articleDetails.aspx?coType=1&aId=3624

Similar Items