Targeted copy number screening highlights an intragenic deletion of WDR63 as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafish-Reference-Cited by-同舟云学术

Targeted copy number screening highlights an intragenic deletion of WDR63 as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafish

Published:2018-01-11 Issue:4 Volume:39 Page:495-505
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Hofmeister Wolfgang¹²^ORCID,Pettersson Maria¹²,Kurtoglu Deniz¹²,Armenio Miriam¹²,Eisfeldt Jesper¹²³,Papadogiannakis Nikos⁴,Gustavsson Peter¹²⁵,Lindstrand Anna¹²⁵

Affiliation:

1. Department of Molecular Medicine and Surgery; Karolinska Institutet; Stockholm Sweden

2. Centre of Molecular Medicine; Karolinska Institutet; Stockholm Sweden

3. Science for Life Laboratory; Karolinska Institutet Science Park; Solna Sweden

4. Department of Laboratory Medicine; Division of Pathology; Karolinska Institutet; Huddinge Sweden

5. Department of Clinical Genetics; Karolinska University Hospital; Stockholm Sweden

Funder

Arvid Nilssons Fond

Vetenskapsrådet

Svenska Sällskapet för Medicinsk Forskning

Marianne and Marcus Wallenberg Foundation

Kommunfullmäktige, Stockholms Stad

The Harald and Greta Jeanssons foundation

Hjärnfonden

Nilsson Ehle Donations

Erik Rönnberg Foundation

Knut och Alice Wallenbergs Stiftelse

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23388/fullpdf

Reference45 articles.

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5. Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski−/− mice;Colmenares;Nature Genetics,2002

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