Greig cephalopolysyndactyly syndrome

(greg), [MIM*175700] an autosomal dominant disorder characterized by polysyndactyly of the hands and feet, macrocephaly, frontal bossing, hypertelorism, and flat nasal bridge, caused by mutation in the GLI3 gene on chromosome 7p13.

GLI3

A gene on chromosome 7p13 that encodes a DNA-binding C2H2-type zinc finger protein of the Gli family, which plays a role in limb development. The full-length GLI3 (GLI3FL) is a transcriptional activator; GLI3R, the C-terminally truncated form, acts as a repressor of the sonic hedgehog (Shh) pathway.
Molecular pathology
GLI3 mutations are associated with Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, pre-axial polydactyly type IV, and postaxial polydactyly types A1 and B.

Greig ceph·a·lo·pol·y·syn·dac·tyl·y syn·drome

(greg sef'ă-lō-pol'ē-sin-dak'ti-lē sin'drōm) An autosomal dominant disorder characterized by polysyndactyly of the hands and feet, macrocephaly, frontal bossing, hypertelorism, and flat nasal bridge, caused by mutation in the GLI3 gene on chromosome 7p13.

单词	greig cephalopolysyndactyly syndrome
释义	Greig cephalopolysyndactyly syndrome Greig cephalopolysyndactyly syndrome (greg), [MIM175700] an autosomal dominant disorder characterized by polysyndactyly of the hands and feet, macrocephaly, frontal bossing, hypertelorism, and flat nasal bridge, caused by mutation in the GLI3* gene on chromosome 7p13. GLI3 A gene on chromosome 7p13 that encodes a DNA-binding C2H2-type zinc finger protein of the Gli family, which plays a role in limb development. The full-length GLI3 (GLI3FL) is a transcriptional activator; GLI3R, the C-terminally truncated form, acts as a repressor of the sonic hedgehog (Shh) pathway. Molecular pathology GLI3 mutations are associated with Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, pre-axial polydactyly type IV, and postaxial polydactyly types A1 and B. Greig ceph·a·lo·pol·y·syn·dac·tyl·y syn·drome (greg sef'ă-lō-pol'ē-sin-dak'ti-lē sin'drōm) An autosomal dominant disorder characterized by polysyndactyly of the hands and feet, macrocephaly, frontal bossing, hypertelorism, and flat nasal bridge, caused by mutation in the GLI3 gene on chromosome 7p13. See GCPS See GCPS
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