Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

A subset of ciliopathies, including Sensenbrenner, Jeune, and short-rib polydactyly syndromes are characterized by skeletal anomalies accompanied by multiorgan defects such as chronic renal failure and retinitis pigmentosa. Through exome sequencing we identified compound heterozygous mutations in WD...

Полное описание

Сохранить в:
Библиографические подробности
Главные авторы: Bredrup, Cecilie, Saunier, Sophie, Oud, Machteld M., Fiskerstrand, Torunn, Hoischen, Alexander, Brackman, Damien, Leh, Sabine M., Midtbø, Marit, Filhol, Emilie, Bole-Feysot, Christine, Nitschké, Patrick, Gilissen, Christian, Haugen, Olav H., Sanders, Jan-Stephan F., Stolte-Dijkstra, Irene, Mans, Dorus A., Steenbergen, Eric J., Hamel, Ben C.J., Matignon, Marie, Pfundt, Rolph, Jeanpierre, Cécile, Boman, Helge, Rødahl, Eyvind, Veltman, Joris A., Knappskog, Per M., Knoers, Nine V.A.M., Roepman, Ronald, Arts, Heleen H.
Формат: Artigo
Язык:Inglês
Опубликовано: Elsevier 2011
Предметы:
Report
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3213394/
https://ncbi.nlm.nih.gov/pubmed/22019273
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.10.001
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!

Схожие документы