Osteogenesis Imperfecta Due to Combined Heterozygous Mutations in Both COL1A1 and COL1A2, Coexisting With Pituitary Stalk Interruption Syndrome
Author:
Publisher
Frontiers Media SA
Subject
Endocrinology, Diabetes and Metabolism
Reference28 articles.
1. Osteogenesis imperfecta;Forlino;Lancet,2016
2. Pituitary stalk interruption syndrome: cause, clinical manifestations, diagnosis, and management;Voutetakis;Curr Opin Pediatr,2016
3. Pituitary Stalk interruption syndrome from infancy to adulthood: clinical, hormonal, and radiological assessment according to the initial presentation;Bar;PLoS ONE.,2015
4. Hormonal replacement in hypopituitarism in adults: an endocrine society clinical practice guideline;Fleseriu;J Clin Endocrinol Metab.,2016
5. Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations;Korkko;Am J Hum Genet,1998
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2. Combination of osteogenesis imperfecta and type 1 diabetes mellitus;Diabetes mellitus;2022-01-05
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4. Pituitary stalk interruption syndrome and liver changes: From clinical features to mechanisms;World Journal of Gastroenterology;2020-11-28
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