Postnatal microcephaly and retinal involvement expand the phenotype of <scp> <i>RPL10</i> </scp> ‐related disorder-Reference-Cited by-同舟云学术

Postnatal microcephaly and retinal involvement expand the phenotype of RPL10 ‐related disorder

Published:2022-07-25 Issue:10 Volume:188 Page:3032-3040
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:

Cappuccio Gerarda¹²^ORCID,De Bernardi Margherita Lucia¹,Morlando Alessia¹,Peduto Cristina³^ORCID,Scala Iris¹^ORCID,Pinelli Michele¹⁴^ORCID,Bellacchio Emanuele⁵,Gallo Flavio Gioele⁶,Magli Adriano⁶,Plaitano Carmen⁷,Serrano Mercedes⁸⁹,Pías Leticia⁸,Català Jaume⁸,Bolasell Mercè⁹,Torella Annalaura²³,Nigro Vincenzo²³,Zanni Ginevra¹⁰^ORCID,Brunetti‐Pierri Nicola¹²^ORCID

Affiliation:

1. Department of Translational Medicine, Section of Pediatrics Federico II University Naples Italy

2. Telethon Institute of Genetics and Medicine Naples Italy

3. Department of Precision Health University of Campania 'Luigi Vanvitelli' Naples Italy

4. Department of Molecular Medicine and Medical Biotechnology (DMMBM) Federico II University Naples Italy

5. Genetics and Rare Diseases Research Division Bambino Gesù Children's Hospital Rome Italy

6. Department of Pediatric Ophthalmology University of Salerno Fisciano Italy

7. Department of Ophthalmology A.O.U. San Giovanni Di Dio e Ruggi d'Aragona‐Scuola Medica Salernitana Salerno Italy

8. Department of Ophthalmology and Department of Genetic and Molecular Medicine Hospital Sant Joan de Déu Barcelona Spain

9. U‐703 Centre for Biomedical Research on Rare Diseases (CIBER‐ER) Instituto de Salud Carlos III Madrid Spain

10. Unit of Muscular and Neurodegenerative Diseases, Department of Neurosciences Bambino Gesù Children's Hospital Rome Italy

Funder

Fondazione Telethon

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62911

Reference31 articles.

1. A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature

2. A Novel Ribosomopathy Caused by Dysfunction of RPL10 Disrupts Neurodevelopment and Causes X-Linked Microcephaly in Humans

3. Congenital Zika virus infection: a neuropathological review

4. Mutation and expression analyses of the ribosomal protein gene RPL10 in an extended German sample of patients with autism spectrum disorder

5. O-GlcNAcylation alters the selection of mRNAs for translation and promotes 4E-BP1–dependent mitochondrial dysfunction in the retina

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