Literature DB >> 12630968

A novel mutation in exon 7 in a family with mild tricho-rhino-phalangeal syndrome type I.

M Gentile, P Fiorente, A L Buonadonna, F Macina, F Cariola.   

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Year:  2003        PMID： 12630968     DOI： 10.1034/j.1399-0004.2003.00024.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  3 in total

1.  TRPS1 gene alterations in human subependymoma.

Authors:  Sascha B Fischer; Michelle Attenhofer; Sakir H Gultekin; Donald A Ross; Karl Heinimann
Journal:  J Neurooncol       Date:  2017-05-20       Impact factor: 4.130

2.  Characterization of the chromosomal inversion associated with the Koa mutation in the mouse revealed the cause of skeletal abnormalities.

Authors:  Kentaro Katayama; Sayaka Miyamoto; Aki Furuno; Kouyou Akiyama; Sakino Takahashi; Hiroetsu Suzuki; Takehito Tsuji; Tetsuo Kunieda
Journal:  BMC Genet       Date:  2009-09-22       Impact factor: 2.797

3.  Trichorhinophalangeal Syndrome Type I: A Patient with Two Novel and Different Mutations in the TRPS1 Gene.

Authors:  Catarina Dias; Lara Isidoro; Mafalda Santos; Helena Santos; Jorge Sales Marques
Journal:  Case Rep Genet       Date:  2013-04-17
  3 in total

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