Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia

American Journal of Human Genetics - United States
doi 10.1016/j.ajhg.2019.03.010
Full Text
Abstract

Available in full text

Categories
Genetics
Date
Authors
Publisher

Elsevier BV

Related search

Homozygous Loss-Of-Function Mutations in SLC26A7 Cause Goitrous Congenital Hypothyroidism

Yearbook of Paediatric Endocrinology
2019English

Feline Congenital Erythropoietic Porphyria: Two Homozygous UROS Missense Mutations Cause the Enzyme Deficiency and Porphyrin Accumulation

Molecular Medicine
Molecular MedicineGeneticsMolecular Biology
2010English

ACTN1 Mutations Cause Congenital Macrothrombocytopenia

American Journal of Human Genetics
Genetics
2013English

Mutations in EMP2 Cause Childhood-Onset Nephrotic Syndrome

American Journal of Human Genetics
Genetics
2014English

Mutations in the Mitochondrial Tryptophanyl‐tRNA Synthetase Cause Growth Retardation and Progressive Leukoencephalopathy

Molecular genetics & genomic medicine
GeneticsMolecular Biology
2019English

Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts

American Journal of Human Genetics
Genetics
2011English

Clinicopathologic Characterization and Abnormal Autophagy of CSF1R-related Leukoencephalopathy

Translational Neurodegeneration
Molecular NeuroscienceNeurologyCellularCognitive Neuroscience
2019English

Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome

American Journal of Human Genetics
Genetics
2017English

Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease

American Journal of Human Genetics
Genetics
2016English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2024 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy