Literature DB >> 25944375

Response to Phelan K. et al.: letter to the editor regarding Disciglio et al: interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome.

Francesca Mari1,2, Antonio Novelli3, Corrado Romano4, Alessandra Renieri1,2.   

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Year:  2015        PMID： 25944375     DOI： 10.1002/ajmg.a.36894

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  1 in total

1.  Phelan-McDermid syndrome: a classification system after 30 years of experience.

Authors:  Katy Phelan; Luigi Boccuto; Craig M Powell; Tobias M Boeckers; Conny van Ravenswaaij-Arts; R Curtis Rogers; Carlo Sala; Chiara Verpelli; Audrey Thurm; William E Bennett; Christopher J Winrow; Sheldon R Garrison; Roberto Toro; Thomas Bourgeron
Journal:  Orphanet J Rare Dis       Date:  2022-01-29       Impact factor: 4.303
  1 in total

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