Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia

BACKGROUND: Skeletal ciliopathies comprise a spectrum of ciliary malfunction disorders that have a profound effect on the skeleton. Most common among these disorders is short rib polydactyly syndrome (SRPS), a recessively inherited perinatal lethal condition characterized by a long narrow chest, mar...

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Detalles Bibliográficos
Autores principales: Duran, Ivan, Taylor, S. Paige, Zhang, Wenjuan, Martin, Jorge, Qureshi, Faisal, Jacques, Suzanne M., Wallerstein, Robert, Lachman, Ralph S., Nickerson, Deborah A., Bamshad, Michael, Cohn, Daniel H., Krakow, Deborah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5387211/
https://www.ncbi.nlm.nih.gov/pubmed/28400947
http://dx.doi.org/10.1186/s13630-017-0051-y

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