A Novel De Novo

Humans Cell Cycle Proteins / genetics Twins, Monozygotic / genetics Neurodevelopmental Disorders / genetics Male Female Phenotype Child Child, Preschool Intellectual Disability / genetics Nuclear Proteins
Cornelia de Lange RAD21 SMC1A SMC3 STAG1 STAG2 cohesin complex cohesinopathies

Journal

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

Informations de publication

Date de publication:
09 Sep 2024
Historique:
received: 02 08 2024
revised: 05 09 2024
accepted: 06 09 2024
medline: 29 9 2024
pubmed: 28 9 2024
entrez: 28 9 2024
Statut: epublish

Résumé

The We report, for the first time, two twins affected by a syndromic neurodevelopmental disorder associated with a de novo variant in the We found different degrees of behavioral, speech and cognitive impairment in two twins affected by a neurodevelopmental disorder associated with a

Sections du résumé

BACKGROUND BACKGROUND
The
METHODS AND RESULTS RESULTS
We report, for the first time, two twins affected by a syndromic neurodevelopmental disorder associated with a de novo variant in the
CONCLUSIONS CONCLUSIONS
We found different degrees of behavioral, speech and cognitive impairment in two twins affected by a neurodevelopmental disorder associated with a

Identifiants

DOI: 10.3390/genes15091184 PMID: 39336775
pubmed: 39336775
pii: genes15091184
doi: 10.3390/genes15091184
pii:
doi:

Substances chimiques

Cell Cycle Proteins 0
STAG1 protein, human 0
Nuclear Proteins 0

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Déclaration de conflit d'intérêts

The authors declare no conflicts of interest.

Auteurs

Lorenzo Cipriano (L)

Department of Molecular Medicine and Medical Biotechnology, University Federico II, 80131 Naples, Italy.

Roberta Russo (R)

Department of Molecular Medicine and Medical Biotechnology, University Federico II, 80131 Naples, Italy.
CEINGE Biotecnologie Avanzate Franco Salvatore, 80145 Naples, Italy.
ORCID: 0000-0002-3624-7721

Immacolata Andolfo (I)

Department of Molecular Medicine and Medical Biotechnology, University Federico II, 80131 Naples, Italy.
CEINGE Biotecnologie Avanzate Franco Salvatore, 80145 Naples, Italy.

Mariangela Manno (M)

Department of Molecular Medicine and Medical Biotechnology, University Federico II, 80131 Naples, Italy.
CEINGE Biotecnologie Avanzate Franco Salvatore, 80145 Naples, Italy.

Raffaele Piscopo (R)

Department of Neuroscience, Reproductive and Odontostomatological Sciences, University Federico II, 80131 Naples, Italy.
ORCID: 0000-0001-6109-8046

Achille Iolascon (A)

Department of Molecular Medicine and Medical Biotechnology, University Federico II, 80131 Naples, Italy.
CEINGE Biotecnologie Avanzate Franco Salvatore, 80145 Naples, Italy.
ORCID: 0000-0002-9558-0356

Carmelo Piscopo (C)

Medical and Laboratory Genetics Unit, A.O.R.N. "Antonio Cardarelli", 80131 Naples, Italy.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › A Novel De Novo
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines du cycle cellulaire › A Novel De Novo
questionsmedicales.fr › Personnes › Progéniture de naissance multiple › Jumeaux › Jumeaux monozygotes › A Novel De Novo
questionsmedicales.fr › Troubles mentaux › Troubles du développement neurologique › A Novel De Novo
questionsmedicales.fr › Phénomènes génétiques › Phénotype › A Novel De Novo
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › A Novel De Novo
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Enfant d'âge préscolaire › A Novel De Novo
questionsmedicales.fr › Troubles mentaux › Troubles du développement neurologique › Déficience intellectuelle › A Novel De Novo
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines nucléaires › A Novel De Novo