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 <italic>GLI2</italic> Gene

• Main Authors: Meliha Demiral (Author), Hüseyin Demirbilek (Author), Edip Unal (Author), Ceren Damla Durmaz (Author), Serdar Ceylaner (Author), Mehmet Nuri Özbek (Author)
• Format: Book
• Published: Galenos Yayincilik, 2020-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...