Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion

Detalles Bibliográficos
Autores principales: Zhou, Cong, Wei, Xing, Xiao, Yuanyuan, Liu, Shanling, Wang, Jing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
Materias:
Correspondence
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10476734/
https://www.ncbi.nlm.nih.gov/pubmed/37667433
http://dx.doi.org/10.1097/CM9.0000000000002285
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author Zhou, Cong
Wei, Xing
Xiao, Yuanyuan
Liu, Shanling
Wang, Jing
author_facet Zhou, Cong
Wei, Xing
Xiao, Yuanyuan
Liu, Shanling
Wang, Jing
author_sort Zhou, Cong
collection PubMed
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spelling pubmed-104767342023-09-05 Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion Zhou, Cong Wei, Xing Xiao, Yuanyuan Liu, Shanling Wang, Jing Chin Med J (Engl) Correspondence Lippincott Williams & Wilkins 2023-09-05 2023-02-08 /pmc/articles/PMC10476734/ /pubmed/37667433 http://dx.doi.org/10.1097/CM9.0000000000002285 Text en Copyright © 2023 The Chinese Medical Association, produced by Wolters Kluwer, Inc. under the CC-BY-NC-ND license. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. http://creativecommons.org/licenses/by-nc-nd/4.0 (https://creativecommons.org/licenses/by-nc-nd/4.0/)
spellingShingle Correspondence
Zhou, Cong
Wei, Xing
Xiao, Yuanyuan
Liu, Shanling
Wang, Jing
Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion
title Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion
title_full Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion
title_fullStr Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion
title_full_unstemmed Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion
title_short Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion
title_sort novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a chinese autosomal recessive mental retardation-52 (mrt52) patient with phenotype expansion
topic Correspondence
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10476734/
https://www.ncbi.nlm.nih.gov/pubmed/37667433
http://dx.doi.org/10.1097/CM9.0000000000002285
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