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Here, we report a Brazilian family with eight affected members over three generations with a phenotype similar to mesomelic Kantaputra dysplasia. This family presents marked shortening of the upper limbs with hypotrophy of the lower limbs and clubfeet without synostosis. Array\u2010based CNV analysis and exome sequencing of four family members failed to show any region or gene candidate. Interestingly, males were more severely affected than females in this family, suggesting that gender differences could play a role in the phenotypic expressivity of this condition.<\/jats:p>","DOI":"10.1002\/ajmg.a.63444","type":"journal-article","created":{"date-parts":[[2023,10,17]],"date-time":"2023-10-17T08:40:26Z","timestamp":1697532026000},"page":"328-336","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A mesomelic skeletal dysplasia, Kantaputra\u2010like, not related to\n                    <i>HOXD<\/i>\n                    cluster region, and with phenotypic gender differences"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6680-793X","authenticated-orcid":false,"given":"Maria Dora Jazmin","family":"Lacarrubba\u2010Flores","sequence":"first","affiliation":[{"name":"Skeletal Dysplasias Group, Department of Translational Medicine\u2010Area of Medical Genetics, Medical 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