Literature DB >> 27734603

First report of congenital adrenal cysts and pheochromocytoma in a patient with mosaic genome-wide paternal uniparental disomy.

Mary White1, George McGillivray2, Sue M White2,3, Margaret R Zacharin1,3.   

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Year:  2016        PMID: 27734603     DOI: 10.1002/ajmg.a.37959

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


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  1 in total

1.  Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients.

Authors:  Lei Wang; Pengfei Liu; Weimin Bi; Teresa Sim; Xia Wang; Magdalene Walkiewicz; Magalie Sophie Leduc; Linyan Meng; Fan Xia; Christine M Eng; Yaping Yang; Bo Yuan; Hongzheng Dai
Journal:  Mol Genet Genomic Med       Date:  2021-09-29       Impact factor: 2.183

  1 in total

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