Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease

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Authors: Joanna Walczak-Sztulpa, Renata Posmyk, Ewelina M. Bukowska-Olech, Anna Wawrocka, Aleksander Jamsheer, Machteld M. Oud, Miriam Schmidts, Heleen H. Arts, Anna Latos-Bielenska, Anna Wasilewska

Journal title: Orphanet Journal of Rare Diseases

Journal number: 15/1

Journal publisher: BioMed Central

Published year: 2020

DOI identifier: 10.1186/s13023-020-1303-2

ISSN: 1750-1172