Literature DB >> 29400302

A novel missense mutation in exon 3 of the TRPS1 gene in a patient with a mild phenotype of tricho-rhino-phalangeal syndrome type 1.

Ryotaro Torai1, Teruhiko Makino1, Megumi Mizawa1, Yutaka Shimomura2, Tadamichi Shimizu1.   

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Year:  2018        PMID： 29400302     DOI： 10.1684/ejd.2018.3233

Source DB:  PubMed          Journal:  Eur J Dermatol        ISSN： 1167-1122            Impact factor:   3.328


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  1 in total

1.  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
  1 in total

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