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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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| 出版年: | J Med Genet |
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| 主要な著者: | , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BMJ Publishing Group
2021
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8142428/ https://ncbi.nlm.nih.gov/pubmed/32591344 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2020-106948 |
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