Xq27.1 Duplication Encompassing SOX3: Variable Phenotype and Smallest Duplication Associated with Hypopituitarism to Date – A Large Case Series of Unrelated Patients and a Literature Review
Author:
Publisher
S. Karger AG
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health
Cited by 14 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. Prenatal detection and molecular cytogenetic characterization of Xp deletion and Xq duplication: a case report and literature review;BMC Medical Genomics;2024-02-21
2. Transcription factors in microcephaly;Frontiers in Neuroscience;2023-11-29
3. Copy number variation in pituitary stalk interruption syndrome: A large case series of sporadic non‐syndromic patients and literature review;Journal of Neuroendocrinology;2022-12-10
4. SOX3 duplication in a boy with 46, XX ovotesticular disorder of sex development and his 46, XX sister with atypical genitalia: Probable germline mosaicism;American Journal of Medical Genetics Part A;2022-11-23
5. Genetic heterogeneity in corpus callosum agenesis;Frontiers in Genetics;2022-09-30
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