Pituitary Stalk Interruption Syndrome
What's New
Last Posted: May 15, 2024
- Exome Sequencing has a high diagnostic rate in sporadic congenital hypopituitarism and reveals novel candidate genes.
Julian Martinez-Mayer, et al. The Journal of clinical endocrinology and metabolism 2024 0 - Copy number variation in pituitary stalk interruption syndrome: A large case series of sporadic non-syndromic patients and literature review.
Correa-Silva Silvia R, et al. Journal of neuroendocrinology 2022 0 (1) e13221 - Pituitary stalk interruption syndrome is characterized by genetic heterogeneity.
Brauner Raja et al. PloS one 2020 15(12) e0242358 - Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients.
Zwaveling-Soonawala Nitash, et al. The Journal of clinical endocrinology and metabolism 2017 11 - Correlation between Pituitary Stalk Interruption Syndrome and Prokineticin Receptor 2 and Prokineticin 2 Mutations.
Han Bai-Yu, et al. Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae 2016 2 (1) 37-41 - Pituitary stalk interruption syndrome in 58 Chinese patients: clinical features and genetic analysis.
Yang Y, et al. Clinical endocrinology 2012 12 - Pituitary stalk interruption syndrome
From NCATS Genetic and Rare Diseases Information Center
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- Page last reviewed:Feb 1, 2024
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