Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(c.1957-2A>C) Mutation in the GLI2 Gene

A novel heterozygous IVS11-2A>C(c.1957-2A>C) mutation in the GLI2 gene is reported. There was an extremely distinct phenotypical expression in two siblings and their father. The index case was a boy who developed cholestasis and hypoglycaemia in the neonatal period. He had bilateral postaxial...

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Detalles Bibliográficos
Autores principales: Demiral, Meliha, Demirbilek, Hüseyin, Unal, Edip, Durmaz, Ceren Damla, Ceylaner, Serdar, Özbek, Mehmet Nuri
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7499131/
https://www.ncbi.nlm.nih.gov/pubmed/31782289
http://dx.doi.org/10.4274/jcrpe.galenos.2019.2019.0142

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7499131/
https://www.ncbi.nlm.nih.gov/pubmed/31782289
http://dx.doi.org/10.4274/jcrpe.galenos.2019.2019.0142

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