Article

A novel frameshift mutation GLI3c.1826delG in a Greig-cephalopolysyndactyly syndrome patient with nontypical preaxial polydactyly: A case report

2024-09-26

Abstract excerpt

<title>Abstract</title> <p>Typical Greig cephalopolysyndactyly (GCPS) is a rare, autosomal dominant congenital limb malformation that is characterized by macrocephaly, ocular hypertelorism, preaxial polydactyly with or without postaxial polydactyly, and cutaneous syndactyly. Hypoplasia or agenesis of the corpus callosum, developmental delay, intellectual disability, or seizures have also been observed in a few pa...

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Literature Corpus work: 918e8ede-d6e6-59b9-8519-3cbe14940045
DOI: 10.21203/rs.3.rs-5102222/v1

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