Literature DB >> 10465122

Identification of a frameshift mutation in the gene TWIST in a family affected with Robinow-Sorauf syndrome.

J Kunz, M Hudler, B Fritz.   

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Year:  1999        PMID: 10465122      PMCID: PMC1762975     

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


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  3 in total

1.  Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.

Authors:  Juanliang Cai; Barbara K Goodman; Ankita S Patel; John B Mulliken; Lionel Van Maldergem; George E Hoganson; William A Paznekas; Ziva Ben-Neriah; Ruth Sheffer; Michael L Cunningham; Donna L Daentl; Ethylin Wang Jabs
Journal:  Hum Genet       Date:  2003-09-25       Impact factor: 4.132

2.  A case of Robinow-Sorauf syndrome (Craniosynostosis-Bifid Hallux Syndrome): The allelic variant of the Saethre-Chotzen syndrome.

Authors:  Arpita Rai Thakur; Venkatesh G Naikmasur
Journal:  Indian J Dent       Date:  2014-04

3.  Genomic pathways modulated by Twist in breast cancer.

Authors:  Farhad Vesuna; Yehudit Bergman; Venu Raman
Journal:  BMC Cancer       Date:  2017-01-13       Impact factor: 4.430

  3 in total

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