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23. Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Gilissen C; Arts HH; Hoischen A; Spruijt L; Mans DA; Arts P; van Lier B; Steehouwer M; van Reeuwijk J; Kant SG; Roepman R; Knoers NV; Veltman JA; Brunner HG Am J Hum Genet; 2010 Sep; 87(3):418-23. PubMed ID: 20817137 [TBL] [Abstract][Full Text] [Related]
24. C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. Arts HH; Bongers EM; Mans DA; van Beersum SE; Oud MM; Bolat E; Spruijt L; Cornelissen EA; Schuurs-Hoeijmakers JH; de Leeuw N; Cormier-Daire V; Brunner HG; Knoers NV; Roepman R J Med Genet; 2011 Jun; 48(6):390-5. PubMed ID: 21378380 [TBL] [Abstract][Full Text] [Related]
25. Diversity of renal phenotypes in patients with WDR19 mutations: Two case reports. Yoshikawa T; Kamei K; Nagata H; Saida K; Sato M; Ogura M; Ito S; Miyazaki O; Urushihara M; Kondo S; Sugawara N; Ishizuka K; Hamasaki Y; Shishido S; Morisada N; Iijima K; Nagata M; Yoshioka T; Ogata K; Ishikura K Nephrology (Carlton); 2017 Jul; 22(7):566-571. PubMed ID: 28621010 [TBL] [Abstract][Full Text] [Related]
26. Sensenbrenner syndrome: a further challenge in evaluating sagittal synostosis and a need for a multidisciplinary approach. Quinaux T; Custodi V; Putoux A; Bacchetta J; Rossi M; Di Rocco F Childs Nerv Syst; 2021 May; 37(5):1695-1701. PubMed ID: 33606107 [TBL] [Abstract][Full Text] [Related]
27. Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies. Loucks CM; Parboosingh JS; Shaheen R; Bernier FP; McLeod DR; Seidahmed MZ; Puffenberger EG; Ober C; Hegele RA; Boycott KM; Alkuraya FS; Innes AM Hum Mutat; 2015 Oct; 36(10):1015-9. PubMed ID: 26220823 [TBL] [Abstract][Full Text] [Related]
28. A novel variant in IFT122 associated with a severe phenotype of cranioectodermal dysplasia. Nagayama S; Takahashi H; Hasegawa F; Hori A; Kizami S; Furukawa R; Horie K; Ogoyama M; Hata K; Fujiwara H Congenit Anom (Kyoto); 2024 Jul; 64(4):177-181. PubMed ID: 38637985 [TBL] [Abstract][Full Text] [Related]
29. Prenatal sonographic features of cranioectodermal dysplasia. Muttusamy T; Ma A; Sinnerbrink I; Quinton AE; Peek MJ; Joung S Prenat Diagn; 2017 Jun; 37(6):628-630. PubMed ID: 28317137 [No Abstract] [Full Text] [Related]
30. Expanded phenotype of cranioectodermal dysplasia (Sensenbrenner syndrome). Amar MJ; Sutphen R; Kousseff BG Am J Med Genet; 1997 Jun; 70(4):349-52. PubMed ID: 9182772 [TBL] [Abstract][Full Text] [Related]
31. A new oculorenal syndrome: retinal dystrophy and tubulointerstitial nephropathy in cranioectodermal dysplasia. Eke T; Woodruff G; Young ID Br J Ophthalmol; 1996 May; 80(5):490-1. PubMed ID: 8695580 [No Abstract] [Full Text] [Related]
32. Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. Walczak-Sztulpa J; Eggenschwiler J; Osborn D; Brown DA; Emma F; Klingenberg C; Hennekam RC; Torre G; Garshasbi M; Tzschach A; Szczepanska M; Krawczynski M; Zachwieja J; Zwolinska D; Beales PL; Ropers HH; Latos-Bielenska A; Kuss AW Am J Hum Genet; 2010 Jun; 86(6):949-56. PubMed ID: 20493458 [TBL] [Abstract][Full Text] [Related]
33. Intrafamilial phenotypic variations in cranioectodermal dysplasia: propositus with typical manifestations and her brother with perinatal death. Tamai S; Tojo M; Kamimaki T; Sato Y; Nishimura G Am J Med Genet; 2002 Jan; 107(1):78-80. PubMed ID: 11807876 [No Abstract] [Full Text] [Related]
35. Phenotype of cranioectodermal dysplasia with different hair and bone abnormalities. Lammer EJ; Baden H; Margolis RJ Am J Med Genet; 1993 Jan; 45(1):9-13. PubMed ID: 8418667 [TBL] [Abstract][Full Text] [Related]
36. Novel compound heterozygous WDR35 variants in a Chinese patient associated with cranioectodermal dysplasia and ectopic testis: a case report and review of the literature. Li L; Liu C; Tian M; Li G; Li J BMC Pediatr; 2023 Aug; 23(1):407. PubMed ID: 37596520 [TBL] [Abstract][Full Text] [Related]
37. Case Report: Sequential Liver After Kidney Transplantation in a Patient With Sensenbrenner Syndrome (Cranioectodermal Dysplasia). Ryżko J; Walczak-Sztulpa J; Czubkowski P; Latos-Bieleńska A; Kowalski A; Stefanowicz M; Jarmużek W; Grenda R; Pawłowska J Front Pediatr; 2022; 10():834064. PubMed ID: 35281231 [TBL] [Abstract][Full Text] [Related]
38. [Pigmentosum retinis and tubulo-interstitial nephronophtisis in Sensenbrenner syndrome: a case report]. Costet C; Betis F; Bérard E; Tsimaratos M; Sigaudy S; Antignac C; Gastaud P J Fr Ophtalmol; 2000 Feb; 23(2):158-60. PubMed ID: 10705117 [TBL] [Abstract][Full Text] [Related]
39. De novo missense mutation, S541Y, in the p63 gene underlying Rapp-Hodgkin ectodermal dysplasia syndrome. Shotelersuk V; Janklat S; Siriwan P; Tongkobpetch S Clin Exp Dermatol; 2005 May; 30(3):282-5. PubMed ID: 15807690 [TBL] [Abstract][Full Text] [Related]