Article
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
Journal of clinical research in pediatric endocrinology - 2 Sept 2020
Demiral Meliha, Demirbilek Hüseyin, Unal Edip, Durmaz Ceren Damla, Ceylaner Serdar, Özbek Mehmet Nuri
Abstract excerpt
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 polydactyly, mid-facial hypoplasia, high palatal arch, micropenis, and bilateral cryptorchidism. Laboratory examination...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.