A case series of a mother and two daughters with a GLI2 gene deletion demonstrating variable expressivity and incomplete penetrance

This case series and review of the literature support that patients with pathogenic variants of the GLI2 gene demonstrate an autosomal dominant inheritance pattern, variable expressivity, and incomplete penetrance.

Detalles Bibliográficos
Autores principales: Elward, Cameron, Berg, Janet, Oberlin, John M., Rohena, Luis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7669391/
https://www.ncbi.nlm.nih.gov/pubmed/33235745
http://dx.doi.org/10.1002/ccr3.3085
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author Elward, Cameron
Berg, Janet
Oberlin, John M.
Rohena, Luis
author_facet Elward, Cameron
Berg, Janet
Oberlin, John M.
Rohena, Luis
author_sort Elward, Cameron
collection PubMed
description This case series and review of the literature support that patients with pathogenic variants of the GLI2 gene demonstrate an autosomal dominant inheritance pattern, variable expressivity, and incomplete penetrance.
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spelling pubmed-76693912020-11-23 A case series of a mother and two daughters with a GLI2 gene deletion demonstrating variable expressivity and incomplete penetrance Elward, Cameron Berg, Janet Oberlin, John M. Rohena, Luis Clin Case Rep Case Reports This case series and review of the literature support that patients with pathogenic variants of the GLI2 gene demonstrate an autosomal dominant inheritance pattern, variable expressivity, and incomplete penetrance. John Wiley and Sons Inc. 2020-08-30 /pmc/articles/PMC7669391/ /pubmed/33235745 http://dx.doi.org/10.1002/ccr3.3085 Text en © 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Elward, Cameron
Berg, Janet
Oberlin, John M.
Rohena, Luis
A case series of a mother and two daughters with a GLI2 gene deletion demonstrating variable expressivity and incomplete penetrance
title A case series of a mother and two daughters with a GLI2 gene deletion demonstrating variable expressivity and incomplete penetrance
title_full A case series of a mother and two daughters with a GLI2 gene deletion demonstrating variable expressivity and incomplete penetrance
title_fullStr A case series of a mother and two daughters with a GLI2 gene deletion demonstrating variable expressivity and incomplete penetrance
title_full_unstemmed A case series of a mother and two daughters with a GLI2 gene deletion demonstrating variable expressivity and incomplete penetrance
title_short A case series of a mother and two daughters with a GLI2 gene deletion demonstrating variable expressivity and incomplete penetrance
title_sort case series of a mother and two daughters with a gli2 gene deletion demonstrating variable expressivity and incomplete penetrance
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7669391/
https://www.ncbi.nlm.nih.gov/pubmed/33235745
http://dx.doi.org/10.1002/ccr3.3085
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