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3. Hypothalamic hamartoma, cerebellar hypoplasia, facial dysmorphism and very atypical combination of polydactyly: is it a new variant of oro-facio-digital syndrome? Okten A; Mungan L; Orhan F; Cakir M Genet Couns; 2005; 16(1):101-5. PubMed ID: 15844787 [TBL] [Abstract][Full Text] [Related]
9. Oral-facial-digital syndrome type IV (Mohr-Majewski syndrome): a fetopathological study. Moerman P; Fryns JP Genet Couns; 1998; 9(1):39-43. PubMed ID: 9555586 [TBL] [Abstract][Full Text] [Related]
10. Neuropathologic findings in a case of OFDS type VI (Váradi syndrome). Doss BJ; Jolly S; Qureshi F; Jacques SM; Evans MI; Johnson MP; Lampinen J; Kupsky WJ Am J Med Genet; 1998 Apr; 77(1):38-42. PubMed ID: 9557892 [TBL] [Abstract][Full Text] [Related]
11. Association of oral-facial-digital syndrome type VI (Varadi-Papp syndrome) with optochiasmatic pilocytic astrocytoma. Sarma P; Bindu PS; Dwarakanath S; Somanna S Childs Nerv Syst; 2015 May; 31(5):789-92. PubMed ID: 25252823 [TBL] [Abstract][Full Text] [Related]
12. [Familial case of oral-facial-digital syndrome type 1 (OFD 1)]. Miklaszewska M; Zachwieja K; Herman-Sucharska I; Drozdz D; Fijak-Moskal J; Gergont A; Kowalska-Duplaga K; Cieszkowska M; Pacia-Medrek B; Pietrzyk JA Przegl Lek; 2014; 71(2):110-4. PubMed ID: 25016787 [TBL] [Abstract][Full Text] [Related]
13. [Orofaciodigital syndrome associated with agenesis of the pituitary gland]. Buño M; Pozo J; Muñoz MT; Espejo M; Argente J An Esp Pediatr; 2000 Apr; 52(4):401-5. PubMed ID: 11003938 [TBL] [Abstract][Full Text] [Related]
14. The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature review. Cocciadiferro D; Agolini E; Digilio MC; Sinibaldi L; Castori M; Silvestri E; Dotta A; Dallapiccola B; Novelli A Medicine (Baltimore); 2020 Feb; 99(8):e19169. PubMed ID: 32080096 [TBL] [Abstract][Full Text] [Related]
15. Confirmation that mutations in DDX59 cause an autosomal recessive form of oral-facial-digital syndrome: Further delineation of the DDX59 phenotype in two new families. Faily S; Perveen R; Urquhart J; Chandler K; Clayton-Smith J Eur J Med Genet; 2017 Oct; 60(10):527-532. PubMed ID: 28711741 [TBL] [Abstract][Full Text] [Related]
16. Whole-exome sequencing identified novel variants in CPLANE1 that causes oral-facial-digital syndrome Ⅵ by inducing primary cilia abnormality. Qian W; Liu X; Wang Z; Xu Y; Zhang J; Li H; Zhong Q; Li C; Zhu L; Zhou Z; Pan W J Cell Mol Med; 2022 Jun; 26(11):3213-3222. PubMed ID: 35582950 [TBL] [Abstract][Full Text] [Related]
17. Oral-facial-digital syndrome type II (Mohr syndrome): clinical and genetic manifestations. Sakai N; Nakakita N; Yamazaki Y; Ui K; Uchinuma E J Craniofac Surg; 2002 Mar; 13(2):321-6. PubMed ID: 12000897 [TBL] [Abstract][Full Text] [Related]
18. Are the oral-facial-digital syndromes ciliopathies? Toriello HV Am J Med Genet A; 2009 May; 149A(5):1089-95. PubMed ID: 19396822 [TBL] [Abstract][Full Text] [Related]
19. Multiple recurrent and de novo odontogenic keratocysts associated with oral-facial-digital syndrome. Lindeboom JA; Kroon FH; de Vires J; van den Akker HP Oral Surg Oral Med Oral Pathol Oral Radiol Endod; 2003 Apr; 95(4):458-62. PubMed ID: 12686930 [TBL] [Abstract][Full Text] [Related]
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