*Result*: Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease
*Author/editor-in-chief*:
Walczak-Sztulpa, Joanna (Verfasser); Posmyk, Renata (Verfasser); Bukowska-Olech, Ewelina M. (Verfasser); Wawrocka, Anna (Verfasser); Jamsheer, Aleksander (Verfasser); Oud, Machteld M. (Verfasser); Schmidts, Miriam (Verfasser) ; Arts, Heleen H. (Verfasser); Latos-Bielenska, Anna (Verfasser); Wasilewska, Anna (Verfasser)
*Publication*:
Freiburg : Universität, 2020
*Physical description scale*:
Online-Ressource
*Format*:
*Language*:
*eng*
*Notes*:
Orphanet journal of rare diseases
15, 1 (2020) , 36, ISSN: 1750-1172
15, 1 (2020) , 36, ISSN: 1750-1172
*DOI*:
10.1186/s13023-020-1303-2