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Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease.
Gilbert MA, Schultz-Rogers L, Rajagopalan R, Grochowski CM, Wilkins BJ, Biswas S, Conlin LK, Fiorino KN, Dhamija R, Pack MA, Klee EW, Piccoli DA, Spinner NB. Gilbert MA, et al. Among authors: spinner nb. Hum Mutat. 2020 May;41(5):973-982. doi: 10.1002/humu.23986. Epub 2020 Feb 6. Hum Mutat. 2020. PMID: 31944481
Alagille syndrome.
Krantz ID, Piccoli DA, Spinner NB. Krantz ID, et al. Among authors: spinner nb. J Med Genet. 1997 Feb;34(2):152-7. doi: 10.1136/jmg.34.2.152. J Med Genet. 1997. PMID: 9039994 Free PMC article. Review.
Clinical and molecular genetics of Alagille syndrome.
Krantz ID, Piccoli DA, Spinner NB. Krantz ID, et al. Among authors: spinner nb. Curr Opin Pediatr. 1999 Dec;11(6):558-64. doi: 10.1097/00008480-199912000-00015. Curr Opin Pediatr. 1999. PMID: 10590916 Review.
216 results