Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome.

NSD1 gene cardiomyopathy congenital heart defect sotos syndrome

Journal

Diagnostics (Basel, Switzerland)
ISSN: 2075-4418
Titre abrégé: Diagnostics (Basel)
Pays: Switzerland
ID NLM: 101658402

Informations de publication

Date de publication:
11 Mar 2024
Historique:
received: 23 01 2024
revised: 05 03 2024
accepted: 06 03 2024
medline: 27 3 2024
pubmed: 27 3 2024
entrez: 27 3 2024
Statut: epublish

Résumé

Sotos syndrome is an autosomal dominant condition characterized by overgrowth with advanced bone age, macrodolicocephaly, motor developmental delays and learning difficulties, and characteristic facial features caused by heterozygous pathogenetic variants in the

Identifiants

DOI: 10.3390/diagnostics14060594 PMID: 38535015
pubmed: 38535015
pii: diagnostics14060594
doi: 10.3390/diagnostics14060594
pii:
doi:

Types de publication

Journal Article

Langues

eng

Déclaration de conflit d'intérêts

The authors declare no conflicts of interest.

Auteurs

Giulio Calcagni (G)

Area of Fetal, Neonatal, and Cardiological Sciences, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
ORCID: 0000-0003-3187-0829

Federica Ferrigno (F)

Area of Fetal, Neonatal, and Cardiological Sciences, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
The School of Pediatrics, University of Rome "Tor Vergata", 00173 Rome, Italy.
ORCID: 0000-0002-0054-4345

Alessio Franceschini (A)

Area of Fetal, Neonatal, and Cardiological Sciences, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
ORCID: 0000-0003-2339-093X

Maria Lisa Dentici (ML)

Medical Genetics, Translational Pediatrics and Clinical Genetics Research Area, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
ORCID: 0000-0002-9505-5906

Rossella Capolino (R)

Medical Genetics, Translational Pediatrics and Clinical Genetics Research Area, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.

Lorenzo Sinibaldi (L)

Medical Genetics, Translational Pediatrics and Clinical Genetics Research Area, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
ORCID: 0000-0002-1371-936X

Chiara Minotti (C)

Medical Genetics Section, Department of Biomedicine and Prevention, University of Rome "Tor Vergata", 00173 Rome, Italy.
Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
ORCID: 0000-0001-8616-5065

Alessia Micalizzi (A)

Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.

Viola Alesi (V)

Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
ORCID: 0000-0001-7514-5683

Antonio Novelli (A)

Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
ORCID: 0000-0002-9037-4297

Anwar Baban (A)

Cardiogenetic Center, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.

Giovanni Parlapiano (G)

Cardiogenetic Center, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
ORCID: 0000-0002-2275-9670

Domenico Coviello (D)

Laboratory of Human Genetics, Istituto Giannina Gaslini, IRCCS, 16147 Genoa, Italy.
ORCID: 0000-0001-8440-865X

Paolo Versacci (P)

Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, 00161 Rome, Italy.
ORCID: 0000-0002-4484-4729

Carolina Putotto (C)

Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, 00161 Rome, Italy.
ORCID: 0000-0003-3778-3769

Marcello Chinali (M)

Area of Fetal, Neonatal, and Cardiological Sciences, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.

Fabrizio Drago (F)

Area of Fetal, Neonatal, and Cardiological Sciences, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
ORCID: 0000-0003-1888-373X

Andrea Bartuli (A)

Rare Diseases and Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
ORCID: 0000-0001-9765-7460

Bruno Marino (B)

Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, 00161 Rome, Italy.

Maria Cristina Digilio (MC)

Medical Genetics, Translational Pediatrics and Clinical Genetics Research Area, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.

Classifications MeSH