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2. Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin. Brown DJ, Kim TB, Petty EM, Downs CA, Martin DM, Strouse PJ, Moroi SE, Milunsky JM, Lesperance MM. Am J Hum Genet; 2002 Sep; 71(3):618-24. PubMed ID: 12089654 [Abstract] [Full Text] [Related]
4. Triphalangeal thumb and brachy-ectrodactyly syndrome. Confirmation of autosomal dominant inheritance. Silengo MC, Biagioli M, Bell GL, Bona G, Franceschini P. Clin Genet; 1987 Jan; 31(1):13-8. PubMed ID: 3568429 [Abstract] [Full Text] [Related]
5. Distal symphalangism: a report of two families. Poush JR. J Hered; 1991 Jan; 82(3):233-8. PubMed ID: 2061594 [Abstract] [Full Text] [Related]
6. A syndrome of polydactyly-syndactyly and triphalangeal thumbs in three generations. Yujnovsky O, Ayala D, Vincitorio A, Viale H, Sakati N, Nyhan WL. Clin Genet; 1974 Jan; 6(1):51-9. PubMed ID: 4372010 [No Abstract] [Full Text] [Related]
7. Stub thumbs in Israel revisited. Goodman RM, Feinstein A, Hertz M. J Med Genet; 1984 Dec; 21(6):460-2. PubMed ID: 6512836 [Abstract] [Full Text] [Related]
14. A new syndrome of triphalangeal thumbs and brachy-ectrodactyly. Carnevale A, Hernández M, del Castillo V, Torres P. Clin Genet; 1980 Oct; 18(4):244-52. PubMed ID: 7438506 [Abstract] [Full Text] [Related]
15. A novel frameshift mutation of the GLI3 gene in a family with broad thumbs with/without big toes, postaxial polydactyly and variable syndactyly of the hands/feet. Al-Qattan MM. Clin Genet; 2012 Nov; 82(5):502-4. PubMed ID: 22428873 [No Abstract] [Full Text] [Related]
16. [Regular dominance of thumb ankylosis with mental retardation transmitted over 3 generations]. Piussan C, Lenaerts C, Mathieu M, Boudailliez B. J Genet Hum; 1983 Jun; 31(2):107-14. PubMed ID: 6631421 [Abstract] [Full Text] [Related]
19. Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome. Takahashi T, Takahashi I, Komatsu M, Sawaishi Y, Higashi K, Nishimura G, Saito H, Takada G. Clin Genet; 2001 Dec; 60(6):447-51. PubMed ID: 11846737 [Abstract] [Full Text] [Related]