Associated Papers
Gardos channelopathies: novel insights into KCNN4 mutations and their clinical impact.
Warang P et al.
Journal of Human Genetics, 2026
A Rare Combination of High-Affinity Hemoglobin, Non-Transfusion-Dependent Thalassemia (Αlpha-Triplication and Codon 39 Mutation), and Hereditary Stomatocytosis.
Fatigati C et al.
American Journal of Hematology, 2026
Melatonin receptor 1A variants as genetic cause of idiopathic osteoporosis.
Bisikirska B et al.
Science Translational Medicine, 2024
39413162 (PubMed )
Supplement: scitranslmed.adj0085_data_files_s1_to_s10.zip › adj0085_data_file_s1.xlsx › Sheet1
Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis.
Nakahara E et al.
Human Genome Variation, 2023
New KCNN4 Variants Associated With Anemia: Stomatocytosis Without Erythrocyte Dehydration.
Allegrini B et al.
Frontiers in Physiology, 2022
Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients.
Andolfo I et al.
Genes, 2021
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