Pituitary Stalk Interruption Syndrome
Last Posted: Dec 08, 2020
- 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
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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