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

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

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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Bibliographic Details
Main Authors: Meliha Demiral, Hüseyin Demirbilek, Edip Unal, Ceren Damla Durmaz, Serdar Ceylaner, Mehmet Nuri Özbek
Format: Article
Language:English
Published: Galenos Yayincilik 2020-09-01
Series:JCRPE
Subjects:
growth hormone deficiency
polydactyly
gli2 mutations
multiple pituitary hormone deficiency
Online Access: http://www.jcrpe.org/archives/archive-detail/article-preview/ectopic-posterior-pituitary-polydactyly-midfacial-/30877

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http://www.jcrpe.org/archives/archive-detail/article-preview/ectopic-posterior-pituitary-polydactyly-midfacial-/30877

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