Literature DB >> 33368646

Siblings with vascular Ehlers-Danlos syndrome inherited via maternal mosaicism.

Takayuki Yokoi1,2, Yumi Enomoto3, Yoshinori Tsurusaki3, Kenji Kurosawa2.   

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Year:  2021        PMID： 33368646     DOI： 10.1111/cga.12408

Source DB:  PubMed          Journal:  Congenit Anom (Kyoto)        ISSN： 0914-3505            Impact factor:   1.409


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  1 in total

1.  Gonosomal Mosaicism for a Novel COL5A1 Pathogenic Variant in Classic Ehlers-Danlos Syndrome.

Authors:  Lucia Micale; Thomas Foiadelli; Federica Russo; Luigia Cinque; Francesco Bassanese; Matteo Granatiero; Carmela Fusco; Salvatore Savasta; Marco Castori
Journal:  Genes (Basel)       Date:  2021-11-29       Impact factor: 4.096
  1 in total

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