A rare case of deafness and renal abnormalities in HDR syndrome caused by a de novo mutation in the GATA3 gene

F.T.A. Martins, B.D. Ramos, E.L. Sartorato, Arrojo Martins Fábio

    Research output: Contribution to journalArticleScientificpeer-review

    1 Citation (Scopus)
    Original languageEnglish
    Pages (from-to)794-798
    JournalGENETICS AND MOLECULAR BIOLOGY
    Volume41
    Issue number4
    DOIs
    Publication statusPublished - 2018
    Publication typeA1 Journal article-refereed

    Keywords

    • Deafness
    • HDR syndrome
    • Hypoparathyroidism
    • Renal abnormalities
    • Whole exome sequencing

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