Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation

ConclusionOur findings add to the phenotypic, genetic, and biochemical spectrum of hyaline fibromatosis syndrome.

Source: Molecular Genetics & Genomic Medicine - March 21, 2020 Category: Genetics & Stem Cells Authors: Bettina H ärter, Francesco Benedicenti, Daniela Karall, Ekkehard Lausch, Gisela Schweigmann, Franco Stanzial, Andrea Superti‐Furga, Sabine Scholl‐Bürgi Tags: CLINICAL REPORT Source Type: research