A Novel Hypomorphic CSF1R Gene Mutation in the Biallelic State Leading to Fatal Childhood Neurodegeneration.

Child, Preschool Consanguinity Fatal Outcome Female Humans Leukoencephalopathies / genetics Male Pedigree Receptors, Granulocyte-Macrophage Colony-Stimulating Factor / genetics

Journal

Neuropediatrics
ISSN: 1439-1899
Titre abrégé: Neuropediatrics
Pays: Germany
ID NLM: 8101187

Informations de publication

Date de publication:
08 2020
Historique:
pubmed: 29 5 2020
medline: 5 6 2021
entrez: 29 5 2020
Statut: ppublish

Résumé

We report the clinical and molecular characterization of a novel biallelic mutation in the

Identifiants

DOI: 10.1055/s-0040-1702161 PMID: 32464672
pubmed: 32464672
doi: 10.1055/s-0040-1702161
doi:

Substances chimiques

CSF1R protein, human 0
Receptors, Granulocyte-Macrophage Colony-Stimulating Factor 0

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

302-306

Informations de copyright

Georg Thieme Verlag KG Stuttgart · New York.

Déclaration de conflit d'intérêts

None declared.

Auteurs

Parag Mohan Tamhankar (PM)

Centre for Medical Genetics, Mulund, Mumbai, India.

Bin Zhu (B)

Department of Molecular Genetics, Brain Research Institute, Niigata University, Japan.

Vasundhara Parag Tamhankar (VP)

Centre for Medical Genetics, Mulund, Mumbai, India.

Shilpa Mithbawkar (S)

Centre for Medical Genetics, Mulund, Mumbai, India.

Luis Seabra (L)

Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Paris, France.

John H Livingston (JH)

Department of Paediatric Neurology, Leeds Teaching Hospitals and University of Leeds, Leeds, United Kingdom.

Takeshi Ikeuchi (T)

Department of Molecular Genetics, Brain Research Institute, Niigata University, Japan.

Yanick J Crow (YJ)

Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Paris, France.
Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Enfant d'âge préscolaire › A Novel Hypomorphic CSF1R Gene Mutation in the...
questionsmedicales.fr › Phénomènes génétiques › Consanguinité › A Novel Hypomorphic CSF1R Gene Mutation in the...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Collecte de données › Registre civil › Mortalité › Issue fatale › A Novel Hypomorphic CSF1R Gene Mutation in the...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › A Novel Hypomorphic CSF1R Gene Mutation in the...
questionsmedicales.fr › Maladies du système nerveux › Maladies du système nerveux central › Encéphalopathies › Leucoencéphalopathies › A Novel Hypomorphic CSF1R Gene Mutation in the...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Pedigree › A Novel Hypomorphic CSF1R Gene Mutation in the...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Récepteurs de surface cellulaire › Récepteurs peptidiques › Récepteur facteur croissance › Récepteurs aux facteurs de croissance hématopoïétique › Récepteur de facteur de croissance granulocyte-macrophage › A Novel Hypomorphic CSF1R Gene Mutation in the...