Homozygous mutation in CSF1R causes brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS)

Homozygous mutation in CSF1R causes brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS)

Introduction: The CSF1R gene encodes the receptor for colony-stimulating factor-1, the macrophage, and monocyte-specific growth factor. Mutations in this gene cause hereditary diffuse leukoencephalopathy with spheroids (HDLS) with autosomal dominant inheritance and BANDDOS (Brain Abnormalities, Neur...

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Bibliographic Details
Main Authors: Hossein Daghagh, Haniyeh Rahbar Kafshboran, Yousef Daneshmandpour, Maryam Nasiri Aghdam, Shahrzad Talebian, Jafar Nouri Nojadeh, Hamid Hamzeiy, Saskia Biskup, Ebrahim Sakhinia
Format: Article
Language:English
Published: Tabriz University of Medical Sciences 2023-05-01
Series:BioImpacts
Subjects:
banddos
csf1r
next generation sequencing
mutation
Online Access:https://bi.tbzmed.ac.ir/PDF/bi-13-183.pdf

Internet

https://bi.tbzmed.ac.ir/PDF/bi-13-183.pdf

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