Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes

INTRODUCTION: Pathogenic DNA variants in the GLI-Kruppel family member 3 (GLI3) gene are known to cause multiple syndromes: for example, Greig syndrome, preaxial polydactyly-type 4 (PPD4) and Pallister-Hall syndrome. Out of these, Pallister-Hall is a different entity, but the distinction between Gre...

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Detalles Bibliográficos
Autores principales: Baas, Martijn, Burger, Elise Bette, van den Ouweland, Ans MW, Hovius, Steven ER, de Klein, Annelies, van Nieuwenhoven, Christianne A, Galjaard, Robert Jan H
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2021
Materias:
Genotype-Phenotype Correlations
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8142428/
https://www.ncbi.nlm.nih.gov/pubmed/32591344
http://dx.doi.org/10.1136/jmedgenet-2020-106948

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8142428/
https://www.ncbi.nlm.nih.gov/pubmed/32591344
http://dx.doi.org/10.1136/jmedgenet-2020-106948

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