Article
Exome sequencing identified a de novo mutation of PURA gene in a patient with familial Xp22.31 microduplication.
European journal of medical genetics - 1 Feb 2019
Qiao Ying, Bagheri Hani, Tang Flamingo, Badduke Chansonette, Martell Sally, Lewis Suzanne M E, Robinson Wendy, Connolly Mary B, Arbour Laura, Rajcan-Separovic Evica
Abstract excerpt
The clinical significance of Xp22.31 microduplication is controversial as it is reported in subjects with developmental delay (DD), their unaffected relatives and unrelated controls. We performed multifaceted studies in a family of a boy with hypotonia, dysmorphic features and DD who carried a 600 Kb Xp22.31 microduplication (7515787-8123310bp, hg19) containing two genes, VCX and PNPLA4. The duplication was...
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