- Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
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Choi JY, Kim SE, Lee SE, Kim SC
- KMID: 2418801
- Yonsei Med J.
- 2018 Mar;59(2):341-344.
- doi: 10.3349/ymj.2018.59.2.341
Olmsted syndrome (OS) is a rare congenital skin disorder characterized by severe palmoplantar and periorificial keratoderma, alopecia, onychodystrophy, and severe pruritus. Recently, pathogenic ‘gain-of-function‘ mutations of the transient receptor potential... -
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- A Novel De Novo Pathogenic Variant in FOXF1 in a Newborn with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins
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Ma Y, Jang MA, Yoo HS, Ahn SY, Sung SI, Chang YS, Ki CS, Park WS
- KMID: 2419131
- Yonsei Med J.
- 2017 May;58(3):672-675.
- doi: 10.3349/ymj.2017.58.3.672
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is an autosomal dominant, fatal developmental disorder of the lungs, with a mortality rate of about 100%. ACD/MPV is caused by... -
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