Article
Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease.
Orphanet journal of rare diseases - 1 Feb 2020
Walczak-Sztulpa Joanna, Posmyk Renata, Bukowska-Olech Ewelina M, Wawrocka Anna, Jamsheer Aleksander, Oud Machteld M, Schmidts Miriam, Arts Heleen H, Latos-Bielenska Anna, Wasilewska Anna
Abstract excerpt
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 renal ano...
Topics
- Bone and Bones
- Carrier Proteins
- Child, Preschool
- Craniosynostoses
- Ectodermal Dysplasia
- Humans
- Kidney Failure, Chronic
- Male
- Mutation
- Poland