Saul-Wilson syndrome – Genetics Home Reference

Clara T. Fryman

Ferreira CR, Xia ZJ, Clément A, Parry DA, Davids M, Taylan F, Sharma P, Turgeon CT, Blanco-Sánchez B, Ng BG, Logan CV, Wolfe LA, Solomon BD, Cho MT, Douglas G, Carvalho DR, Bratke H, Haug MG, Phillips JB, Wegner J, Tiemeyer M, Aoki K Undiagnosed Conditions Community Scottish Genome Partnership, […]

Ferreira CR, Xia ZJ, Clément A, Parry DA, Davids M, Taylan F, Sharma P, Turgeon CT, Blanco-Sánchez B, Ng BG, Logan CV, Wolfe LA, Solomon BD, Cho MT, Douglas G, Carvalho DR, Bratke H, Haug MG, Phillips JB, Wegner J, Tiemeyer M, Aoki K Undiagnosed Conditions Community Scottish Genome Partnership, Nordgren A, Hammarsjö A, Duker AL, Rohena L, Hove HB, Ek J, Adams D, Tifft CJ, Onyekweli T, Weixel T, Macnamara E, Radtke K, Powis Z, Earl D, Gabriel M, Russi AHS, Brick L, Kozenko M, Tham E, Raymond KM, Phillips JA third, Tiller GE, Wilson WG, Hamid R, Malicdan MCV, Nishimura G, Grigelioniene G, Jackson A, Westerfield M, Bober MB, Gahl WA, Freeze HH. A Recurrent De Novo Heterozygous COG4 Substitution Prospects to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. Am J Hum Genet. 2018 Oct 4103(4):553-567. doi: 10.1016/j.ajhg.2018.09.003.

Ferreira CR, Zein WM, Huryn LA, Merker A, Berger SI, Wilson WG, Tiller GE, Wolfe LA, Merideth M, Carvalho DR, Duker AL, Bratke H, Haug MG, Rohena L, Hove HB, Xia ZJ, Ng BG, Freeze HH, Gabriel M, Russi AHS, Brick L, Kozenko M, Earl DL, Tham E, Nishimura G, Phillips JA third, Gahl WA, Hamid R, Jackson AP, Grigelioniene G, Bober MB. Defining the scientific phenotype of Saul-Wilson syndrome. Genet Med. 2020 Jan seventeen. doi: 10.1038/s41436-019-0737-1. [Epub in advance of print]

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Constitutional mismatch repair deficiency syndrome - Genetics Home Reference

Constitutional mismatch repair deficiency (CMMRD) syndrome is a uncommon dysfunction that tremendously increases the chance of establishing one or additional varieties of most cancers in young children and younger older people. The cancers that most usually happen in CMMRD syndrome are cancers of the (big intestine) and rectum (collectively referred […]

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