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Article

A GLI3 variant leading to polydactyly in heterozygotes and Pallister-Hall-like syndrome in a homozygote.

Clinical genetics - 1 Jun 2020

Kariminejad Ariana, Ghaderi-Sohi Siavash, Keshavarz Elham, Hashemi Seyed Abolghasem, Parsimehr Elham, Szenker-Ravi Emmanuelle, Khatoo Muznah, Faraji Zonooz Mehrshid, Reversade Bruno, Najmabadi Hossein, Hennekam Raoul C

Abstract excerpt

Variants in transcriptional activator Gli Kruppel Family Member 3 (GLI3) have been reported to be associated with several phenotypes including Greig cephalopolysyndactyly syndrome (MIM #175700), Pallister-Hall syndrome (PHS) (MIM #146510), postaxial polydactyly types A1 (PAPA1) and B (PAPB) (MIM #174200), and preaxial polydactyly type 4 (MIM #174700). All these disorders follow an autosomal dominant pattern of...

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PMID: 32112393
DOI: 10.1111/cge.13730

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