Literature DB >> 30791088

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

Zafer Yüksel1, Florian Vogel1, Amal M Alhashem2,3, Talal S A Alanzi2, Brahim Tabarki2, Kapil Kampe1, Krishna K Kandaswamy1, Martin Werber1, Aida M Bertoli-Avella1, Christian Beetz1, Arndt Rolfs1, Peter Bauer1.   

Abstract

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Year:  2019        PMID： 30791088     DOI： 10.1111/cge.13513

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  2 in total

1.  A genotype-first analysis in a cohort of Mullerian anomaly.

Authors:  Weijie Tian; Na Chen; Yang Ye; Congcong Ma; Chenglu Qin; Yuchen Niu; L Xiaoxin; Lina Zhao; Hengqiang Zhao; Ze Liang; Shuang Song; Yuan Wang; Zefu Chen; Jiachen Lin; Zihui Yan; Jiali Duan; Sen Zhao; Terry Jianguo Zhang; Guixing Qiu; Zhihong Wu; Nan Wu; Lan Zhu
Journal:  J Hum Genet       Date:  2022-01-13       Impact factor: 3.172

2.  DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes.

Authors:  Jonathan Marquez; Nina Mann; Kathya Arana; Engin Deniz; Weizhen Ji; Monica Konstantino; Emily K Mis; Charu Deshpande; Lauren Jeffries; Julie McGlynn; Hannah Hugo; Eugen Widmeier; Martin Konrad; Velibor Tasic; Raffaella Morotti; Julia Baptista; Sian Ellard; Saquib Ali Lakhani; Friedhelm Hildebrandt; Mustafa K Khokha
Journal:  J Med Genet       Date:  2020-07-06       Impact factor: 6.318
  2 in total

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