Associated Papers
A 3-year-old Tanzanian Female with Glucose-6-Phosphate Dehydrogenase A- and a Novel Heterozygous PIEZO1 Mutation (2744A>G, N915S) Presenting with Severe Hemolytic Anemia.
Fustino NJ et al.
Annals of African Medicine, 2024
Perinatal presentations of non-immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis.
Ghesh L et al.
Clinical Genetics, 2023
The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure.
Kim SY et al.
Orphanet Journal of Rare Diseases, 2022
Cation Channelopathies: Novel Insights into Generalized Lymphatic Dysplasia.
Jung R et al.
Circulation Research, 2022
Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases.
Park S et al.
Frontiers in Genetics, 2022
36212160 (PubMed )
Supplement: DataSheet2.xlsx › Table_S2
Extended phenotypes of PIEZO1-related lymphatic dysplasia caused by two novel compound heterozygous variants.
Lee S et al.
European Journal of Medical Genetics, 2021
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