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A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia

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Bibliographic Details
Published in:Clinical genetics 2019, Vol.95 (5), p.631-633
Main Authors: Yüksel, Zafer, Vogel, Florian, Alhashem, Amal M, Alanzi, Talal S A, Tabarki, Brahim, Kampe, Kapil, Kandaswamy, Krishna K, Werber, Martin, Bertoli-Avella, Aida M, Beetz, Christian, Rolfs, Arndt, Bauer, Peter
Format: Report
Language:English
Online Access:Get full text
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ISSN:1399-0004
DOI:10.1111/cge.13513