Literature DB >> 23494899

First evidence of vertical paternal transmission of osteopatia striata with cranial sclerosis.

Sara Ciceri1, Elisa Cattaneo, Chiara Fossati, Paolo Radice, Angelo Selicorni, Daniela Perotti.   

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Year:  2013        PMID： 23494899     DOI： 10.1002/ajmg.a.35813

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


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  1 in total

1.  Whole Exome Sequencing Provides the Correct Diagnosis in a Case of Osteopathia Striata with Cranial Sclerosis: Case Report of a Novel Frameshift Mutation in AMER1.

Authors:  José María García-Aznar; Noelia Ramírez; David De Uña; Elisa Santiago; Lorenzo Monserrat
Journal:  J Pediatr Genet       Date:  2020-04-21
  1 in total

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