Article
Whole exome sequencing analysis in a couple with three children who died prematurely due to carnitine-acylcarnitine translocase deficiency.
Taiwanese journal of obstetrics & gynecology - 1 Jan 2022
Tran Van Khanh, Diep Quang Minh, Qiu Zilong, Le Thi Phuong, Do Long Duy, Tran Hai Anh, Bui The-Hung, Ta Thanh Van, Tran Thinh Huy
Abstract excerpt
OBJECTIVE: We investigated a strategy of exome sequencing DNA from the unaffected parents and applied a set of filtering criteria to identify genes where both partners are heterozygous for a potentially pathogenic variant. CASE REPORT: We report a non-consanguineous couple who had three daughters, all spontaneous preterm birth at 36 weeks gestation and died in the first period after birth, suspected inborn errors...
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