Literature DB >> 22127049

TRPS1 codon 952 constitutes a mutational hot spot in trichorhinophalangeal syndrome type I and could be associated with intellectual disability.

Jan A Sidler1, Isabel Filges, Nemya Boesch, Gian Paolo Ramelli, Benno Röthlisberger, Andreas R Huber, Sevgi Tercanli, Lucio Bronz, Peter Miny, Karl Heinimann.   

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Year:  2012        PMID： 22127049     DOI： 10.1097/MCD.0b013e32834e9248

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


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  4 in total

Review 1.  Brachydactyly E: isolated or as a feature of a syndrome.

Authors:  Arrate Pereda; Intza Garin; Maria Garcia-Barcina; Blanca Gener; Elena Beristain; Ane Miren Ibañez; Guiomar Perez de Nanclares
Journal:  Orphanet J Rare Dis       Date:  2013-09-12       Impact factor: 4.123

2.  A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report.

Authors:  W Smaili; S Chafai Elalaoui; S Meier; M Zerkaoui; A Sefiani; K Heinimann
Journal:  BMC Med Genet       Date:  2017-05-03       Impact factor: 2.103

3.  Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly.

Authors:  Francesca Marta Elli; Deborah Mattinzoli; Camilla Lucca; Matteo Piu; Maria A Maffini; Jole Costanza; Laura Fontana; Carlo Santaniello; Concetta Forino; Donatella Milani; Maria Teresa Bonati; Andrea Secco; Roberto Gastaldi; Carlo Alfieri; Piergiorgio Messa; Monica Miozzo; Maura Arosio; Giovanna Mantovani
Journal:  J Bone Miner Res       Date:  2022-01-17       Impact factor: 6.390

4.  An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4.

Authors:  Nikoletta Selenti; Maria Tzetis; Maria Braoudaki; Krinio Gianikou; Sofia Kitsiou-Tzeli; Helen Fryssira
Journal:  Mol Cytogenet       Date:  2015-08-12       Impact factor: 2.009
  4 in total

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