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Back Cover, Volume 43, Issue 7

Human mutation(2022)

Programa de Pós‐Graduação em Ciências da Saúde Universidade de Brasília Brasília DF Brasil | Programa de Pós‐Graduação em Ciências Médicas Universidade de Brasília Brasília DF Brasil | Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA | Department of Pediatrics University of Washington Seattle Washington USA | Programa de Pós‐graduação em Ciências Genômicas e Biotecnologia | Radboud University Nijmegen Medical Centre Nijmegen The Netherlands | Faculdade de Medicina Universidade de Brasília Brasília DF Brasil | Medical Genetics Department | Division of Genetics and Genomic Medicine | Obstetrics and Gynecology Stanford University Stanford California USA | Unidad de Genética | Department of Orthopedics Indira Gandhi Medical College Snowdon India | Hospital de Reabilitação de Anomalias Craniofaciais Bauru Brasil | Universidade Presbiteriana Mackenzie–UPM São Paulo Brasil | Laboratório de Endocrinologia Celular e Molecular LIM25 | Unidade de Genética | Programa de Mestrado Profissional em Aconselhamento Genético e Genômica Humana | Department of Pathology and Laboratory Medicine | Department of Medical Genetics Basaksehir Cam and Sakura City Hospital Istanbul Turkey | School of Medicine Istanbul Medeniyet University Istanbul Turkey | Medical Genetics Department Medicine Faculty Mugla Sitki Kocman University Mugla Turkey | Department of Medical Genetics Osaka Women's and Children's Hospital Osaka Japan | Saitama Children's Medical Center | Human Genome Sequencing Center | Departamento de Genética e Biologia Evolutiva | Department of Genetics and Genomics

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Abstract
Back Cover: The cover image is based on the Research Article Phenotypic and mutational spectrum of ROR2-related Robinow syndrome by Juliana Forte Mazzeu de Araujo et al., https://doi.org/10.1002/humu.24375.
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要点】:本文研究了ROR2基因突变与Robinow综合征之间的关联,揭示了其表型和突变谱,为Robinow综合征的诊断和治疗提供了新见解。

方法】:作者采用全外显子测序和生物信息学分析,对一组患有Robinow综合征的患者进行了ROR2基因的变异分析。

实验】:研究使用了来自多个家族的Robinow综合征患者样本,通过全外显子测序发现了ROR2基因的多种新突变,这些突变与患者的临床症状密切相关。