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Summary Literature (3)
Literature for DOID 1148: polydactyly

Xenbase Articles :
( Denotes literature images)
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia., Bergmann C,Fliegauf M,Brüchle NO,Frank V,Olbrich H,Kirschner J,Schermer B,Schmedding I,Kispert A,Kränzlin B,Nürnberg G,Becker C,Grimm T,Girschick G,Lynch SA,Kelehan P,Senderek J,Neuhaus TJ,Stallmach T,Zentgraf H,Nürnberg P,Gretz N,Lo C,Lienkamp S,Schäfer T,Walz G,Benzing T,Zerres K,Omran H, Am J Hum Genet. April 1, 2008; 82(4):1537-6605.
Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome., Johnston JJ,Lee C,Lee C,Lee C,Wentzensen IM,Parisi MA,Crenshaw MM,Sapp JC,Gross JM,Wallingford JB,Biesecker LG, Cold Spring Harb Mol Case Stud. January 1, 2017; 3(4):2373-2873.
Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease., Getwan M,Hoppmann A,Schlosser P,Grand K,Song W,Diehl R,Schroda S,Heeg F,Deutsch K,Hildebrandt F,Lausch E,Köttgen A,Lienkamp SS, Proc Natl Acad Sci U S A. January 1, 2021; 118(39):1091-6490.