PMC Links for OMIM (Select 614068) - PMC

Result Filters

Links from OMIM

Items: 4

Select item 60755581.

A mutation in IFT43 causes non-syndromic recessive retinal degeneration

Pooja Biswas, Jacque L Duncan, Muhammad Ali, Hiroko Matsui, Muhammad Asif Naeem, Pongali B Raghavendra, Kelly A Frazer, Heleen H Arts, Sheikh Riazuddin, Javed Akram, J Fielding Hejtmancik, S Amer Riazuddin, Radha Ayyagari

Hum Mol Genet. 2017 Dec 1; 26(23): 4741–4751. Published online 2017 Sep 18. doi: 10.1093/hmg/ddx356

PMCID:: PMC6075558

Abstract Article PDF–1.4M

Select item 53872112.

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

Ivan Duran, S. Paige Taylor, Wenjuan Zhang, Jorge Martin, Faisal Qureshi, Suzanne M. Jacques, Robert Wallerstein, Ralph S. Lachman, Deborah A. Nickerson, Michael Bamshad, Daniel H. Cohn, Deborah Krakow

Cilia. 2017; 6: 7. Published online 2017 Apr 10. doi: 10.1186/s13630-017-0051-y

PMCID:: PMC5387211

Abstract Article PDF–2.6M

Select item 30320673.

Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by Mutations in the IFT122 Gene

Joanna Walczak-Sztulpa, Jonathan Eggenschwiler, Daniel Osborn, Desmond A. Brown, Francesco Emma, Claus Klingenberg, Raoul C. Hennekam, Giuliano Torre, Masoud Garshasbi, Andreas Tzschach, Malgorzata Szczepanska, Marian Krawczynski, Jacek Zachwieja, Danuta Zwolinska, Philip L. Beales, Hans-Hilger Ropers, Anna Latos-Bielenska, Andreas W. Kuss

Am J Hum Genet. 2010 Jun 11; 86(6): 949–956. doi: 10.1016/j.ajhg.2010.04.012

PMCID:: PMC3032067

Abstract Article PDF–1.0M

Select item 29333494.

Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome

Christian Gilissen, Heleen H. Arts, Alexander Hoischen, Liesbeth Spruijt, Dorus A. Mans, Peer Arts, Bart van Lier, Marloes Steehouwer, Jeroen van Reeuwijk, Sarina G. Kant, Ronald Roepman, Nine V.A.M. Knoers, Joris A. Veltman, Han G. Brunner

Am J Hum Genet. 2010 Sep 10; 87(3): 418–423. doi: 10.1016/j.ajhg.2010.08.004