Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review

Greig cephalopolysyndactyly syndrome (GCPS) is a rare genetic disorder (about 200 cases reported), characterized by macrocephaly, hypertelorism, and polysyndactyly. Most of the reported GCPS cases are the results of heterozygous loss of function mutations affecting the GLI3 gene (OMIM# 175700), whil...

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Detalles Bibliográficos
Autores principales: Kozma, Kinga, Bembea, Marius, Jurca, Claudia M., Ioana, Mihai, Streață, Ioana, Şoşoi, Simona Ş., Pirvu, Andrei, Petchesi, Codruța D., Szilágyi, Ariana, Sava, Cristian N., Jurca, Alexandru, Ujfalusi, Anikó, Szűcs, Zsuzsanna, Szakszon, Katalin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8623992/
https://www.ncbi.nlm.nih.gov/pubmed/34828280
http://dx.doi.org/10.3390/genes12111674

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8623992/
https://www.ncbi.nlm.nih.gov/pubmed/34828280
http://dx.doi.org/10.3390/genes12111674

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