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A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation

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A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. / Undiagnosed Diseases Network.

In: American Journal of Human Genetics, Vol. 103, No. 4, 04.10.2018, p. 553-567.

Research output: Contribution to journalArticle

Harvard

Undiagnosed Diseases Network 2018, 'A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation', American Journal of Human Genetics, vol. 103, no. 4, pp. 553-567. https://doi.org/10.1016/j.ajhg.2018.09.003

APA

Undiagnosed Diseases Network (2018). A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. American Journal of Human Genetics, 103(4), 553-567. https://doi.org/10.1016/j.ajhg.2018.09.003

Vancouver

Undiagnosed Diseases Network. A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. American Journal of Human Genetics. 2018 Oct 4;103(4):553-567. https://doi.org/10.1016/j.ajhg.2018.09.003

Author

Undiagnosed Diseases Network. / A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. In: American Journal of Human Genetics. 2018 ; Vol. 103, No. 4. pp. 553-567.