Article
Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations.
American journal of medical genetics. Part A - 1 May 2017
Walczak-Sztulpa Joanna, Wawrocka Anna, Sobierajewicz Agata, Kuszel Lukasz, Zawadzki Jan, Grenda Ryszard, Swiader-Lesniak Anna, Kocyla-Karczmarewicz Beata, Wnuk Anna, Latos-Bielenska Anna, Chrzanowska Krystyna H
Abstract excerpt
Sensenbrenner syndrome (cranioectodermal dysplasia, CED) is a very rare autosomal recessive ciliopathy. Cranioectodermal dysplasia is characterized by craniofacial, skeletal, and ectodermal abnormalities. About 50 patients have been described to date. Sensenbrenner syndrome belongs to a group of...
Topics
- Alleles
- Bone and Bones
- Child
- Cilia
- Codon, Nonsense
- Craniosynostoses
- Cytoskeletal Proteins
- Ectodermal Dysplasia
- Female
- Hedgehog Proteins
- Humans
- Intracellular Signaling Peptides and Proteins
- Kidney