Literature DB >> 6479995

A pair of siblings with diastrophic dysplasia and E trisomy mosaicism.

G Holmgren, S Jagell, B Lagerkvist, I Nordenson.   

Abstract

A mixture of clinical signs seen in diastrophic dysplasia as well as in trisomy 18 was found in two siblings with an E trisomy mosaicism. The E trisomy mosaicism was present in blood and skin during the first years of life, but disappeared later on.

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Year:  1984        PMID： 6479995     DOI： 10.1159/000153477

Source DB:  PubMed          Journal:  Hum Hered        ISSN： 0001-5652            Impact factor:   0.444


  1 in total

1.  Large Genomic Imbalances in Brugada Syndrome.

Authors:  Irene Mademont-Soler; Mel Lina Pinsach-Abuin; Helena Riuró; Jesus Mates; Alexandra Pérez-Serra; Mònica Coll; José Manuel Porres; Bernat Del Olmo; Anna Iglesias; Elisabet Selga; Ferran Picó; Sara Pagans; Carles Ferrer-Costa; Geòrgia Sarquella-Brugada; Elena Arbelo; Sergi Cesar; Josep Brugada; Óscar Campuzano; Ramon Brugada
Journal:  PLoS One       Date:  2016-09-29       Impact factor: 3.240
  1 in total

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