A Comprehensive Review of Fragile X Syndrome and Fragile X Premutation Associated Conditions in Africa.

Fragile X Syndrome / genetics Humans Fragile X Mental Retardation Protein / genetics Africa / epidemiology Mutation Trinucleotide Repeat Expansion / genetics
Africa fragile X premutation-associated conditions fragile X syndrome treatment

Journal

Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097

Informations de publication

Date de publication:
25 May 2024
Historique:
received: 21 04 2024
revised: 17 05 2024
accepted: 23 05 2024
medline: 27 6 2024
pubmed: 27 6 2024
entrez: 27 6 2024
Statut: epublish

Résumé

Fragile X syndrome (FXS) is a genetic disorder caused by a mutation in the fragile X messenger ribonucleoprotein 1 (

Identifiants

DOI: 10.3390/genes15060683 PMID: 38927619
pubmed: 38927619
pii: genes15060683
doi: 10.3390/genes15060683
pii:
doi:

Substances chimiques

Fragile X Mental Retardation Protein 139135-51-6
FMR1 protein, human 0

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : NICHD NIH HHS
ID : HD036071
Pays : United States
Organisme : NICHD NIH HHS
ID : P50 HD103526
Pays : United States

Auteurs

Chioma N P Mbachu (CNP)

Department of Paediatrics, Faculty of Medicine, College of Health Sciences, Nnamdi Azikiwe University, Nnewi Campus, Nnewi 435101, Nigeria.
MIND Institute, University of California Davis, Sacramento, CA 95817, USA.

Ikechukwu Innocent Mbachu (II)

Department of Obstetrics and Gynaecology, Faculty of Medicine, College of Health Sciences, Nnamdi Azikiwe University, Nnewi Campus, Nnewi 435101, Nigeria.

Randi Hagerman (R)

MIND Institute, University of California Davis, Sacramento, CA 95817, USA.
Department of Pediatrics, University of California Davis Health, Sacramento, CA 95817, USA.
ORCID: 0000-0001-5029-8448

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Classifications MeSH

questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies neurodégénératives héréditaires › Retard mental lié à l'X › Syndrome du chromosome X fragile › A Comprehensive Review of Fragile X Syndrome...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › A Comprehensive Review of Fragile X Syndrome...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Nucléoprotéines › Protéines de liaison à l'ARN › Protéine du syndrome X fragile › A Comprehensive Review of Fragile X Syndrome...
questionsmedicales.fr › Régions géographiques › Afrique › A Comprehensive Review of Fragile X Syndrome...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › A Comprehensive Review of Fragile X Syndrome...
questionsmedicales.fr › Phénomènes génétiques › Mutagenèse › Expansion de séquence répétée de l'ADN › Expansion de trinucléotide répété › A Comprehensive Review of Fragile X Syndrome...