Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polyda...
Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes
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England: BMJ Publishing Group LTD
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English
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England: BMJ Publishing Group LTD
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IntroductionPathogenic 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 Greig syndrome and PPD4 is less evident. Using latent c...
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Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8142428
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8142428
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ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2020-106948
