Mesomelic dysplasia, Kantaputra type: Clinical report, prenatal diagnosis, no evidence forSHOX deletion/mutation
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference8 articles.
1. The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32
2. Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach
3. International nosology and classification of constitutional disorders of bone (2001)
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1. A mesomelic skeletal dysplasia, Kantaputra‐like, not related to HOXD cluster region, and with phenotypic gender differences;American Journal of Medical Genetics Part A;2023-10-17
2. Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster;European Journal of Human Genetics;2019-10-07
3. Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q;European Journal of Human Genetics;2010-07-21
4. A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1;Journal of Medical Genetics;2010-06-24
5. A case of mesomelic dysplasia Kantaputra type – new findings and a new diagnostic approach;Journal of Pediatric Orthopaedics B;2008-09
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