Patients with DeSanto–Shinawi syndrome: Further extension of phenotype from Italy-Reference-Cited by-同舟云学术

Patients with DeSanto–Shinawi syndrome: Further extension of phenotype from Italy

Published:2022-11-24 Issue:3 Volume:191 Page:823-830
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Pasquali Daniela¹^ORCID,Torella Annalaura²³,Grandone Anna⁴,Luongo Caterina⁴,Morleo Manuela²³,Peduto Cristina²,di Fraia Rosa¹,Selvaggio Lucia Digitale¹,Allosso Francesca¹,Accardo Giacomo¹,Zanobio Maria Teresa²,Maitz Silvia⁵⁶,Mariani Milena⁷,Selicorni Angelo⁷,Banfi Sandro²³,Nigro Vincenzo²³,

Affiliation:

1. Department of Advanced Medical and Surgical Sciences University of Campania “Luigi Vanvitelli” Naples Italy

2. Genetica Medica, Department of Precision Medicine University of Campania “Luigi Vanvitelli” Naples Italy

3. Telethon Institute of Genetics and Medicine (TIGEM) Pozzuoli Italy

4. Department of Women's and Children's Health and General and Specialized Surgery University of Campania “Luigi Vanvitelli” Naples Italy

5. Pediatric Genetics Unit MBBM Foundation, S. Gerardo Hospital Monza Italy

6. Service of Medical Genetics Oncologic Institute of Southern Switzerland Lugano Switzerland

7. Department of Pediatrics S. Fermo Hospital, ASST Lariana Como Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63061

Reference21 articles.

1. Self-limited focal epilepsy and childhood apraxia of speech with WAC pathogenic variants

2. WACloss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome

3. Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing

4. Activation of ULK Kinase and Autophagy by GABARAP Trafficking from the Centrosome Is Regulated by WAC and GM130

5. Coiling up with SCOC and WAC