Hemizygous contiguous gene deletion within Xq28 that includes BCAP31, ABCD1, SRPK3 and SSR4: case report and literature review
We report on a rare 110 kilobase contiguous gene deletion within chromosome region Xq28, encompassing 7 annotated Online Mendelian Inheritance in Man (OMIM) genes and extending from BCAP31 to the telomeric-located PDZD4. We review 13 other reported contiguous deletions in this region and analyze the...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
KeAi Communications Co., Ltd.
2025-09-01
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| Series: | Global Medical Genetics |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2699940425000670 |
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