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MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Mak CCY, Doherty D, Lin AE, Vegas N, Cho MT, Viot G, Dimartino C, Weisfeld-Adams JD, Lessel D, Joss S, Li C, Gonzaga-Jauregui C, Zarate YA, Ehmke N, Horn D, Troyer C, Kant SG, Lee Y, Ishak GE, Leung G, Barone Pritchard A, Yang S, Bend EG, Filippini F, Roadhouse C, Lebrun N, Mehaffey MG, Martin PM, Apple B, Millan F, Puk O, Hoffer MJV, Henderson LB, McGowan R, Wentzensen IM, Pei S, Zahir FR, Yu M, Gibson WT, Seman A, Steeves M, Murrell JR, Luettgen S, Francisco E, Strom TM, Amlie-Wolf L, Kaindl AM, Wilson WG, Halbach S, Basel-Salmon L, Lev-El N, Denecke J, Vissers LELM, Radtke K, Chelly J, Zackai E, Friedman JM, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics; Reid RR, Devriendt K, Chae JH, Stolerman E, McDougall C, Powis Z, Bienvenu T, Tan TY, Orenstein N, Dobyns WB, Shieh JT, Choi M, Waggoner D, Gripp KW, Parker MJ, Stoler J, Lyonnet S, Cormier-Daire V, Viskochil D, Hoffman TL, Amiel J, Chung BHY, Gordon CT. Mak CCY, et al. Among authors: gripp kw. Brain. 2020 Jan 1;143(1):55-68. doi: 10.1093/brain/awz379. Brain. 2020. PMID: 31834374 Free PMC article.
Imaging studies in a unique familial dysmyelinating disorder.
Gripp KW, Zimmerman RA, Wang ZJ, Rorke LB, Duhaime AC, Schut L, Molloy PT, Tucker SH, Zackai EH, Muenke M. Gripp KW, et al. AJNR Am J Neuroradiol. 1998 Aug;19(7):1368-72. AJNR Am J Neuroradiol. 1998. PMID: 9726484 Free PMC article.
Not Antley-Bixler syndrome.
Gripp KW, Zackai EH, Cohen MM Jr. Gripp KW, et al. Am J Med Genet. 1999 Mar 5;83(1):65-8. Am J Med Genet. 1999. PMID: 10076887 Review. No abstract available.
Mutations in the human TWIST gene.
Gripp KW, Zackai EH, Stolle CA. Gripp KW, et al. Hum Mutat. 2000;15(2):150-5. doi: 10.1002/(SICI)1098-1004(200002)15:2<150::AID-HUMU3>3.0.CO;2-D. Hum Mutat. 2000. PMID: 10649491 Review.
204 results