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The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.
Wilson BT, Stark Z, Sutton RE, Danda S, Ekbote AV, Elsayed SM, Gibson L, Goodship JA, Jackson AP, Keng WT, King MD, McCann E, Motojima T, Murray JE, Omata T, Pilz D, Pope K, Sugita K, White SM, Wilson IJ. Wilson BT, et al. Among authors: motojima t. Genet Med. 2016 May;18(5):483-93. doi: 10.1038/gim.2015.110. Epub 2015 Jul 23. Genet Med. 2016. PMID: 26204423 Free PMC article.
Interstitial 6q25 microdeletion syndrome: 46,XX,del(6)(q25.2q26).
Inoue T, Sato K, Ohashi H, Motojima T, Takizawa T. Inoue T, et al. Among authors: motojima t. Pediatr Int. 2019 Jun;61(6):618-620. doi: 10.1111/ped.13871. Epub 2019 Jun 13. Pediatr Int. 2019. PMID: 31195430 No abstract available.
25 results