Case report: a typical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum.

IGF2 Silver-Russell syndrome VPS16 body asymmetry endolysosomal pathway hand dystonia unexpected molecular results

Journal

Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621

Informations de publication

Date de publication:
2023
Historique:
received: 03 04 2023
accepted: 19 06 2023
medline: 2 8 2023
pubmed: 2 8 2023
entrez: 2 8 2023
Statut: epublish

Résumé

The amount of Insulin Growth Factor 2 (IGF2) controls the rate of embryonal and postnatal growth. The

Identifiants

pubmed: 37529781
doi: 10.3389/fgene.2023.1198821
pii: 1198821
pmc: PMC10387531
doi:

Types de publication

Case Reports

Langues

eng

Pagination

1198821

Informations de copyright

Copyright © 2023 Vimercati, Tannorella, Orlandini, Calzari, Moro, Guzzetti, Selicorni, Crippa, Larizza, Bonati and Russo.

Déclaration de conflit d'intérêts

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

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Auteurs

Alessandro Vimercati (A)

Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milano, Italy.

Pierpaola Tannorella (P)

Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milano, Italy.

Eleonora Orlandini (E)

Specialty School of Pediatrics, Alma Mater University of Bologna, Bologna, Italy.

Luciano Calzari (L)

Bioinformatics and Statistical Genomics Unit, IRCCS Istituto Auxologico Italiano, Milano, Italy.

Mirella Moro (M)

Department of Endocrine and Metabolic Diseases and Lab of Endocrine and Metabolic Research, IRCCS Istituto Auxologico Italiano, Milano, Italy.

Sara Guzzetti (S)

Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milano, Italy.

Angelo Selicorni (A)

UOC Pediatria, ASST Lariana, Como, Italy.

Milena Crippa (M)

Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milano, Italy.

Lidia Larizza (L)

Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milano, Italy.

Maria Teresa Bonati (MT)

Unit of Medical Genetics, Institute for Maternal and Child Health Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Burlo Garofalo, Trieste, Italy.

Silvia Russo (S)

Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milano, Italy.

Classifications MeSH