Hemizygous contiguous gene deletion within Xq28 that includes BCAP31, ABCD1, SRPK3 and SSR4: case report and literature review

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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Bibliographic Details
Main Authors: Joan Chern-Hui Lien, Vinay D. Chandrasekaran, Tarachandra M. Narumanchi, Melissa S. Napoli, Jo Elle G. Peterson, Charles A. Williams
Format: Article
Language:English
Published: KeAi Communications Co., Ltd. 2025-09-01
Series:Global Medical Genetics
Subjects:
Contiguous gene deletion
Xq28
X chromosome
Microarray
Online Access:http://www.sciencedirect.com/science/article/pii/S2699940425000670
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