Functionally impaired RPL8 variants associated with Diamond–Blackfan anemia and a Diamond–Blackfan anemia‐like phenotype-Reference-Cited by-同舟云学术

Functionally impaired RPL8 variants associated with Diamond–Blackfan anemia and a Diamond–Blackfan anemia‐like phenotype

Published:2022-01-23 Issue: Volume: Page:
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Lebaron Simon¹^ORCID,O'Donohue Marie‐Françoise¹^ORCID,Smith Scott C.²,Engleman Kendra L.³⁴,Juusola Jane⁵,Safina Nicole P.³⁴,Thiffault Isabelle²⁶⁷^ORCID,Saunders Carol J.²⁶⁷,Gleizes Pierre‐Emmanuel¹^ORCID

Affiliation:

1. Molecular, Cellular and Developmental biology department (MCD), Centre de Biologie Intégrative (CBI) University of Toulouse, CNRS, UT3 Toulouse France

2. Department of Pathology and Laboratory Medicine Children's Mercy Hospital Kansas City Missouri USA

3. Division of Clinical Genetics Children's Mercy Hospital Kansas City Missouri USA

4. Department of Pediatrics Children's Mercy Hospital Kansas City Missouri USA

5. GeneDx Inc. Gaithersburg Maryland USA

6. University of Missouri‐Kansas City School of Medicine Kansas City Missouri USA

7. Center for Pediatric Genomic Medicine Children's Mercy Hospital Kansas City Missouri USA

Funder

Agence Nationale de la Recherche

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24323

Reference46 articles.

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5. Variable expressivity and incomplete penetrance in a large family with non‐classical Diamond‐Blackfan anemia associated with ribosomal protein L11 splicing variant

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