Huriez syndrome caused by a large deletion that abrogates the skin-specific isoform of SMARCAD1.
Abigail Yi Ting LohC M HoSiobhan MuthiahByrappa VenkateshSimon ZwolinskiA P J J BrayBruno ReversadeNeil RajanThomas James CarneyPublished in: The British journal of dermatology (2021)
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