Neurological Phenotype of Mowat-Wilson Syndrome.

Abnormalities, Multiple / genetics Embryonic Development / genetics Facies Genetic Predisposition to Disease Heterozygote Hirschsprung Disease / genetics Humans Intellectual Disability / genetics Microcephaly / genetics Phenotype Sequence Deletion / genetics Zinc Finger E-box Binding Homeobox 2 / genetics
GABAergic transmission ZEB2 corpus callosum epilepsy intellectual disability. neural crest neurodevelopmental delay sleep disorders

Journal

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

Informations de publication

Date de publication:
27 06 2021
Historique:
received: 24 05 2021
revised: 22 06 2021
accepted: 24 06 2021
entrez: 2 7 2021
pubmed: 3 7 2021
medline: 3 2 2022
Statut: epublish

Résumé

Mowat-Wilson Syndrome (MWS) (OMIM # 235730) is a rare disorder due to

Identifiants

DOI: 10.3390/genes12070982 PMID: 34199024 PMC: PMC8305916
pubmed: 34199024
pii: genes12070982
doi: 10.3390/genes12070982
pmc: PMC8305916
pii:
doi:

Substances chimiques

ZEB2 protein, human 0
Zinc Finger E-box Binding Homeobox 2 0

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

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Auteurs

Duccio Maria Cordelli (DM)

IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell'Età Pediatrica, 40139 Bologna, Italy.
ORCID: 0000-0002-1367-6419

Veronica Di Pisa (V)

IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell'Età Pediatrica, 40139 Bologna, Italy.

Anna Fetta (A)

IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell'Età Pediatrica, 40139 Bologna, Italy.
ORCID: 0000-0003-0175-6486

Livia Garavelli (L)

Medical Genetics Unit, Department of Mother and Child, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.

Lucia Maltoni (L)

IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell'Età Pediatrica, 40139 Bologna, Italy.

Luca Soliani (L)

IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell'Età Pediatrica, 40139 Bologna, Italy.
ORCID: 0000-0002-1411-9200

Emilia Ricci (E)

Child Neuropsychiatry Unit, Epilepsy Center, San Paolo Hospital, Department of Health Sciences, University of Milan, 20142 Milan, Italy.

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Classifications MeSH

questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations multiples › Neurological Phenotype of Mowat-Wilson Syndrome.
questionsmedicales.fr › Phénomènes physiologiques des appareils urinaire et reproducteur › Phénomènes physiologiques de la reproduction › Reproduction › Développement embryonnaire et foetal › Développement embryonnaire › Neurological Phenotype of Mowat-Wilson Syndrome.
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Examen physique › Faciès › Neurological Phenotype of Mowat-Wilson Syndrome.
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › Neurological Phenotype of Mowat-Wilson Syndrome.
questionsmedicales.fr › Phénomènes génétiques › Génotype › Hétérozygote › Neurological Phenotype of Mowat-Wilson Syndrome.
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations de l'appareil digestif › Maladie de Hirschsprung › Neurological Phenotype of Mowat-Wilson Syndrome.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Neurological Phenotype of Mowat-Wilson Syndrome.
questionsmedicales.fr › Troubles mentaux › Troubles du développement neurologique › Déficience intellectuelle › Neurological Phenotype of Mowat-Wilson Syndrome.
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations du système nerveux › Malformations corticales › Malformations corticales du groupe I › Microcéphalie › Neurological Phenotype of Mowat-Wilson Syndrome.
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Neurological Phenotype of Mowat-Wilson Syndrome.
questionsmedicales.fr › Phénomènes génétiques › Mutagenèse › Délétion de séquence › Neurological Phenotype of Mowat-Wilson Syndrome.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Protéines de répression › Facteur de transcription Zeb2 › Neurological Phenotype of Mowat-Wilson Syndrome.