Missense mutation ofTRPS1 in a family of tricho-rhino-phalangeal syndrome type III
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference9 articles.
1. Trichorhinophalangeal Syndrome Type III
2. Tricho-rhino-phalangeal syndrome type III
3. Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III
4. Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I
5. Another family with tricho-rhino-phalangeal syndrome type III (Sugio-Kajii syndrome)
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1. TRPS1 drives heterochromatic origin refiring and cancer genome evolution;Cell Reports;2021-03
2. TRPS1 mutation detection in Chinese patients with Tricho‐rhino‐phalangeal syndrome and identification of four novel mutations;Molecular Genetics & Genomic Medicine;2020-08-10
3. Non-ossifying fibroma with a pathologic fracture in a 12-year-old girl with tricho-rhino-phalangeal syndrome: a case report;BMC Medical Genetics;2018-12
4. Mutation analysis of TRPS1 gene including core promoter, 5′UTR, and 3′UTR regulatory sequences with insight into their organization;Clinica Chimica Acta;2017-01
5. Whole-exome sequencing in Tricho-rhino-phalangeal syndrome (TRPS) type I in a Korean family;Genes & Genomics;2016-12-28
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