A monoallelic SEC23A variant E599K associated with cranio‐lenticulo‐sutural dysplasia-Reference-Cited by-同舟云学术

A monoallelic SEC23A variant E599K associated with cranio‐lenticulo‐sutural dysplasia

Published:2021-09-28 Issue:1 Volume:188 Page:319-325
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:

Cisarova Katarina¹^ORCID,Garavelli Livia²^ORCID,Caraffi Stefano Giuseppe²^ORCID,Peluso Francesca²,Valeri Lara²,Gargano Giancarlo³,Gavioli Sara³,Trimarchi Gabriele²,Neri Alberto⁴,Campos‐Xavier Belinda¹,Superti‐Furga Andrea¹^ORCID

Affiliation:

1. Division of Genetic Medicine Lausanne University Hospital and University of Lausanne Lausanne Switzerland

2. Clinical Genetics Unit Azienda USL‐IRCCS of Reggio Emilia Reggio Emilia Italy

3. Neonatal Intensive Care Unit Azienda USL‐IRCCS of Reggio Emilia Reggio Emilia Italy

4. Ophthalmology Unit, Department of Surgery Azienda USL‐IRCCS of Reggio Emilia Reggio Emilia Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62506

Reference26 articles.

1. Dynamics of the COPII coat with GTP and stable analogues

2. The Protein Data Bank

3. Structure of the Sec23/24–Sar1 pre-budding complex of the COPII vesicle coat

4. Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in theSEC23Bgene

5. Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking

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1. First Case of a Dominant De Novo SEC23A Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review;Genes;2024-01-20

2. Novel compound heterozygous variants of the SEC23A gene in a Chinese family with cranio-lenticulo-sutural dysplasia based on data from a large cohort of congenital cataract patients;BMC Medical Genomics;2023-10-12