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
Author:
Publisher
Galenos Yayinevi
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health
Cited by 4 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Re-analysis of gene mutations found in pituitary stalk interruption syndrome and a new hypothesis on the etiology;Frontiers in Endocrinology;2024-02-23
2. Case report: A case of Culler-Jones syndrome caused by a novel mutation of GLI2 gene and literature review;Frontiers in Endocrinology;2023-03-03
3. Truncating and zinc‐finger variants in GLI2 are associated with hypopituitarism;American Journal of Medical Genetics Part A;2021-12-17
4. Pituitary stalk interruption syndrome and liver changes: From clinical features to mechanisms;World Journal of Gastroenterology;2020-11-28
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