A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
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July 2007 in “Circulation Research” Defects in certain proteins cause major heart abnormalities during early development.
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December 2014 in “Cold Spring Harbor Perspectives in Medicine” Disruptions in epidermal polarity genes can lead to skin diseases.
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January 2023 in “Frontiers in cell and developmental biology” Celsr1 is crucial for skin cell alignment, while Celsr2 has little effect on this process.
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July 2023 in “Nature communications” MOF controls key genes for skin development by regulating mitochondrial and ciliary functions.