A Case of Chorea with Slow Saccades Caused by NKX2‐1 Mutation
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DOI: 10.1002/mdc3.14013
Abstract: Co-occurrence of chorea and slow saccades is highly suggestive of Huntington ’ s disease and has only very rarely been reported in patients with other conditions, such as spinocerebellar ataxia type 2 (SCA2) 1 and… read more here.
Keywords: chorea slow; nkx2 mutation; slow saccades; case ... See more keywords
NKX2.1 mutation revealed by a lymphoid interstitial pneumonia in an adult with rheumatoid arthritis
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DOI: 10.1183/23120541.00682-2022
Abstract: NKX2.1 encodes the thyroid transcription factor 1 (TTF1), which is implicated in lung development and control of the expression of surfactant proteins [1]. This transcription factor is also expressed in the brain and the thyroid,… read more here.
Keywords: nkx2 mutation; revealed lymphoid; lymphoid interstitial; mutation revealed ... See more keywords