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

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

Abstract Background Sensenbrenner syndrome, which is also known as cranioectodermal dysplasia (CED), is a rare, autosomal recessive ciliary chondrodysplasia characterized by a variety of clinical features including a distinctive craniofacial appearance as well as skeletal, ectodermal, liver and rena...

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Bibliographic Details
Main 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
Format: Article
Language:English
Published: BMC 2020-02-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Sensenbrenner syndrome
Cranioectodermal dysplasia
IFT140
Ciliopathy
End-stage renal disease
Online Access:https://doi.org/10.1186/s13023-020-1303-2

Internet

https://doi.org/10.1186/s13023-020-1303-2

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