Characterization of a Novel Frameshift Mutation Within the TRPS1 Gene Causing Trichorhinophalangeal Syndrome Type 1 in a Kindred Cypriot Family-Reference-Cited by-同舟云学术

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Characterization of a Novel Frameshift Mutation Within the TRPS1 Gene Causing Trichorhinophalangeal Syndrome Type 1 in a Kindred Cypriot Family

Published:2022-09-13 Issue:9 Volume:30 Page:635-639
ISSN:1541-2016
Container-title:Applied Immunohistochemistry & Molecular Morphology
language:en
Short-container-title:

Author:

Ergoren Mahmut Cerkez,Akcan Nese,Manara Elena,Paolacci Stefano,Fahrioğlu Umut,Betmezoglu Meryem,Bundak Ruveyde,Mocan Gamze,Temel Sehime Gulsun,Bertelli Matteo

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Medical Laboratory Technology,Histology,Pathology and Forensic Medicine

Reference14 articles.

1. Trichorhinophalangeal Syndrome;Vaccaro;Open Access Maced J Med Sci,2017

2. Trichorhinophalangeal syndrome type I: symptoms and signs, radiology and genetics;Noltorp;Ann Rheum Dis,1986

3. Phenotype and genotype in 103 patients with tricho-rhinophalangeal syndrome;Maas;Eur J Med Genet,2015

4. A novel TRPS1 gene mutation causing trichorhinophalangeal syndrome with growth hormone responsive short stature: a case report and review of the literature;Merjaneh;Int J Pediatr Endocrinol,2014

5. A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report;Smaili;BMC Med Genet,2017

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. TRPS1 is a Highly Sensitive Marker for Breast Cancer;American Journal of Surgical Pathology;2024-04-18

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