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Publications
The following publications were retrieved from PubMed:
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.
Zhang C, Mazzeu JF, Eisfeldt J, Grochowski CM, White J, Akdemir ZC, Jhangiani SN, Muzny DM, Gibbs RA, Lindstrand A, Lupski JR, Sutton VR, Carvalho CMB.
Am J Med Genet A. 2020 Oct 13;
Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy.
Saad AK, Marafi D, Mitani T, Jolly A, Du H, Elbendary HM, Jhangiani SN, Akdemir ZC, Baylor-Hopkins Center for Mendelian Genomics., Gibbs RA, Hunter JV, Carvalho CMBC, Pehlivan D, Posey JE, Zaki MS, Lupski JR.
Brain. 2020 Oct 1; 10(143)e83
