Whole-exome sequencing in a Japanese family with highly aggregated diabetes identifies a candidate susceptibility mutation in ADAMTSL3.
Sign Up to like & getrecommendations! Published in 2018 at "Diabetes research and clinical practice"
DOI: 10.1016/j.diabres.2017.11.012
Abstract: AIMS The aim of this study was to clarify the genetic background of a family with multiple cases of diabetes accompanied by absolute insulin deficiency using whole-exome sequencing (WES). METHODS In a Japanese family, WES… read more here.
Keywords: exome sequencing; family; japanese family; whole exome ... See more keywords
A novel germline BMPR1A variant (c.72_73delGA) in a Japanese family with hereditary mixed polyposis syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Japanese Journal of Clinical Oncology"
DOI: 10.1093/jjco/hyaa059
Abstract: Abstract Hereditary mixed polyposis syndrome (HMPS) is a rare autosomal dominant disorder characterized by a mixture of typical and/or atypical juvenile polyps, adenomas and hyperplastic polyps, resulting in an increased risk of colorectal cancer. In… read more here.
Keywords: mixed polyposis; germline bmpr1a; polyposis syndrome; japanese family ... See more keywords
A Japanese Family with DICER1 Syndrome Found in Childhood-Onset Multinodular Goitre
Sign Up to like & getrecommendations! Published in 2020 at "Hormone Research in Paediatrics"
DOI: 10.1159/000511140
Abstract: Introduction: Germline DICER1 mutations have recently been identified in familial multinodular goitre (MNG). The natural history of thyroid nodules in DICER1 carriers in children is unclear. The purpose of this study was to describe the… read more here.
Keywords: goitre; dicer1; multinodular goitre; japanese family ... See more keywords
Deletion of 2 amino acids in IHH in a Japanese family with brachydactyly type A1
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DOI: 10.1186/s12920-021-01042-6
Abstract: Background Brachydactyly type A1 (BDA1) is an autosomal dominant disorder characterized by uniform shortening of the middle phalanges in all digits. It is associated with variants in the Indian Hedgehog ( IHH ) gene, which… read more here.
Keywords: japanese family; brachydactyly type; ihh; family ... See more keywords