NovelGLI3variant causes Greig cephalopolysyndactyly syndrome in three generations of a Lithuanian family-Reference-Cited by-同舟云学术

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NovelGLI3variant causes Greig cephalopolysyndactyly syndrome in three generations of a Lithuanian family

Published:2019-07-20 Issue:9 Volume:7 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Siavrienė Evelina¹^ORCID,Mikštienė Violeta¹,Radzevičius Darius²,Maldžienė Živilė¹,Rančelis Tautvydas¹,Petraitytė Gunda¹,Tamulytė Giedrė³,Kavaliauskienė Ingrida¹,Šarkinas Laurynas²,Utkus Algirdas¹,Kučinskas Vaidutis¹,Preikšaitienė Eglė¹

Affiliation:

1. Department of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences Vilnius University Vilnius Lithuania

2. The Children's Hospital Affiliate of Vilnius University Hospital Santaros Klinikos Vilnius Lithuania

3. Faculty of Medicine Vilnius University Vilnius Lithuania

Funder

Research Council of Lithuania

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.878

Reference29 articles.

1. Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes

2. GLI3-related polydactyly: a review

3. Outcome of donor splice site mutations accounting for congenital afibrinogenemia reflects order of intron removal in the fibrinogen alpha gene (FGA)

4. The Greig cephalopolysyndactyly syndrome

5. Syndromic and non-syndromic GLI3 phenotypes

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