Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health
Reference18 articles.
1. Amar MJ, Sutphen R, Kousseff BG (1997) Expanded phenotype of cranioectodermal dysplasia (Sensenbrenner syndrome). Am J Med Genet 70:349–352
2. Antony D, Nampoory N, Bacchelli C, Melhem M, Wu K, James CT, Beales PL, Hubank M, Thomas D, Mashankar A, Behbehani K, Schmidts M, Alsmadi O (2017) Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: example of a WDR35 mutation case and review of the literature. Eur J Med Genet 60(12):658–666. https://doi.org/10.1016/j.ejmg.2017.08.019
3. Arts H, Knoers N (2013) Cranioectodermal dysplasia. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A (eds) GeneReviews®. University of Washington, Seattle, Seattle 1993-2020 Initial Posting:September 12, 2013; Last Revision:April 12, 2018
4. Bredrup C, Saunier S, Oud MM, Fiskerstrand T, Hoischen A, Brackman D, Leh SM, Midtbø M, Filhol E, Bole-Feysot C, Nitschké P, Gilissen C, Haugen OH, Sanders JS, Stolte-Dijkstra I, Mans DA, Steenbergen EJ, Hamel BC, Matignon M, Pfundt R, Jeanpierre C, Boman H, Rødahl E, Veltman JA, Knappskog PM, Knoers NV, Roepman R, Arts HH (2011) Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. Am J Hum Genet 89:634–643
5. Caparrós-Martín JA, De Luca A, Cartault F, Aglan M, Temtamy S, Otaify GA, Mehrez M, Valencia M, Vázquez L, Alessandri JL, Nevado J, Rueda-Arenas I, Heath KE, Digilio MC, Dallapiccola B, Goodship JA, Mill P, Lapunzina P, Ruiz-Perez VL (2015) Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium. Hum Mol Genet 24(14):4126–4137. https://doi.org/10.1093/hmg/ddv152
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