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Cleft palate in a patient with the nested 22q11.2 LCR C to D deletion.
Williams CL, Nelson KR, Grant JH, Mikhail FM, Robin NH. Williams CL, et al. Among authors: nelson kr. Am J Med Genet A. 2016 Jan;170A(1):260-2. doi: 10.1002/ajmg.a.37408. Epub 2015 Sep 30. Am J Med Genet A. 2016. PMID: 26419407 No abstract available.
Inherited cause of in utero digital malformations.
Gooch C, Wright C, Nelson K, Robin N. Gooch C, et al. BMJ Case Rep. 2020 Mar 24;13(3):e232020. doi: 10.1136/bcr-2019-232020. BMJ Case Rep. 2020. PMID: 32209574 Free PMC article.
RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature.
Le Caignec C, Ory B, Lamoureux F, O'Donohue MF, Orgebin E, Lindenbaum P, Téletchéa S, Saby M, Hurst A, Nelson K, Gilbert SR, Wilnai Y, Zeitlin L, Segev E, Tesfaye R, Nizon M, Cogne B, Bezieau S, Geoffroy L, Hamel A, Mayrargue E, de Courtivron B, Decock-Giraudaud A, Charrier C, Pichon O, Retière C, Redon R, Pepler A, McWalter K, Da Costa L, Toutain A, Gleizes PE, Baud'huin M, Isidor B. Le Caignec C, et al. Am J Hum Genet. 2019 Nov 7;105(5):1040-1047. doi: 10.1016/j.ajhg.2019.09.024. Epub 2019 Oct 17. Am J Hum Genet. 2019. PMID: 31630789 Free PMC article.
67 results