{"title":"SHOX值:特纳综合征矮小的假常染色体基因","authors":"Adrianna K. San Roman","doi":"10.1038/s41576-025-00842-1","DOIUrl":null,"url":null,"abstract":"In this Journal Club, Adrianna San Roman describes a 1997 study by Rao et al. that exemplifies how thorough measuring of genotypes and phenotypes in a variable human cohort is instrumental to identifying the genetic basis of clinical phenotypes.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"1 1","pages":""},"PeriodicalIF":39.1000,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"SHOX value: the pseudoautosomal gene underlying short stature in Turner syndrome\",\"authors\":\"Adrianna K. San Roman\",\"doi\":\"10.1038/s41576-025-00842-1\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"In this Journal Club, Adrianna San Roman describes a 1997 study by Rao et al. that exemplifies how thorough measuring of genotypes and phenotypes in a variable human cohort is instrumental to identifying the genetic basis of clinical phenotypes.\",\"PeriodicalId\":19067,\"journal\":{\"name\":\"Nature Reviews Genetics\",\"volume\":\"1 1\",\"pages\":\"\"},\"PeriodicalIF\":39.1000,\"publicationDate\":\"2025-04-14\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Nature Reviews Genetics\",\"FirstCategoryId\":\"99\",\"ListUrlMain\":\"https://doi.org/10.1038/s41576-025-00842-1\",\"RegionNum\":1,\"RegionCategory\":\"生物学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Nature Reviews Genetics","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1038/s41576-025-00842-1","RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
摘要
在这个Journal Club中,Adrianna San Roman描述了Rao等人1997年的一项研究,该研究举例说明了在一个可变的人类队列中如何彻底测量基因型和表型,对于确定临床表型的遗传基础是有帮助的。
SHOX value: the pseudoautosomal gene underlying short stature in Turner syndrome
In this Journal Club, Adrianna San Roman describes a 1997 study by Rao et al. that exemplifies how thorough measuring of genotypes and phenotypes in a variable human cohort is instrumental to identifying the genetic basis of clinical phenotypes.
期刊介绍:
At Nature Reviews Genetics, our goal is to be the leading source of reviews and commentaries for the scientific communities we serve. We are dedicated to publishing authoritative articles that are easily accessible to our readers. We believe in enhancing our articles with clear and understandable figures, tables, and other display items. Our aim is to provide an unparalleled service to authors, referees, and readers, and we are committed to maximizing the usefulness and impact of each article we publish.
Within our journal, we publish a range of content including Research Highlights, Comments, Reviews, and Perspectives that are relevant to geneticists and genomicists. With our broad scope, we ensure that the articles we publish reach the widest possible audience.
As part of the Nature Reviews portfolio of journals, we strive to uphold the high standards and reputation associated with this esteemed collection of publications.