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Maternal uniparental disomy of chromosome 15 and concomitant STRC and CATSPER2 deletion‐mediated deafness‐infertility syndrome |
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| Authors: | Lisa Karger Wahab A. Khan Rafaela Calabio Ram Singh Bixia Xiang Arvind Babu Ninette Cohen Amy C. Yang Stuart A. Scott |
| Affiliation: | 1. Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York;2. Division of Neonatology, Mount Sinai West, New York, New York |
| Abstract: | |
| Keywords: | CATSPER2 chromosome 15 deafness‐infertility syndrome Prader– Willi syndrome STRC uniparental disomy |