Literature DB >> 16243138

Trichorhinophalangeal syndrome.

Mario Vaccaro1, Claudio Guarneri, Alfredo Blandino.   

Abstract

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Year:  2005        PMID: 16243138     DOI: 10.1016/j.jaad.2005.06.003

Source DB:  PubMed          Journal:  J Am Acad Dermatol        ISSN: 0190-9622            Impact factor:   11.527


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  7 in total

Review 1.  Rare monogenetic syndromes in rheumatology practice.

Authors:  K Manger; H Nüsslein; G Schett; B Manger
Journal:  Clin Rheumatol       Date:  2009-02-18       Impact factor: 2.980

2.  Anesthetic management of a child with Langer-Giedion (TRPS II) syndrome.

Authors:  Pavel Michalek; John T Doherty; Michaela Michalkova Vesela
Journal:  J Anesth       Date:  2009-08-14       Impact factor: 2.078

3.  High grade osteosarcoma on a background of trichorhinophalangeal syndrome: A family perspective.

Authors:  Scott Evans; Paul Brewer; Sumathi Vaiyapuri; Robert Grimer
Journal:  J Bone Oncol       Date:  2013-04-22       Impact factor: 4.072

4.  Trichorhinophalangeal Syndrome.

Authors:  Mario Vaccaro; Georgi Tchernev; Uwe Wollina; Torello Lotti; Claudio Guarneri
Journal:  Open Access Maced J Med Sci       Date:  2017-07-22

5.  Non-ossifying fibroma with a pathologic fracture in a 12-year-old girl with tricho-rhino-phalangeal syndrome: a case report.

Authors:  Weijuan Su; Xiulin Shi; Mingzhu Lin; Caoxin Huang; Liying Wang; Haiqu Song; Yanzhen Zhuang; Haifang Zhang; Nanzhu Li; Xuejun Li
Journal:  BMC Med Genet       Date:  2018-12-12       Impact factor: 2.103

6.  TRPS1 mutation detection in Chinese patients with Tricho-rhino-phalangeal syndrome and identification of four novel mutations.

Authors:  Chen Wang; Yufei Xu; Yanrong Qing; Ruen Yao; Niu Li; Xiumin Wang; Tingting Yu; Jian Wang
Journal:  Mol Genet Genomic Med       Date:  2020-08-10       Impact factor: 2.183

Review 7.  An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature.

Authors:  Giulia Trippella; Paolo Lionetti; Sara Naldini; Francesca Peluso; Matteo Della Monica; Stefano Stagi
Journal:  Ital J Pediatr       Date:  2018-11-20       Impact factor: 2.638

  7 in total

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