Unique variants in the FLG gene and FERMT1 gene in a Chinese patient with ichthyosis and Kindler syndrome

JAAD Case Rep. 2019 Nov 22;5(12):1061-1064. doi: 10.1016/j.jdcr.2019.09.023. eCollection 2019 Dec.
No abstract available

Keywords: ACMG, American College of Medical Genetics and Genomics; FERMT1; FLG; IV, ichthyosis vulgaris; Kindler syndrome; REVEL, rare exome variant ensemble learner; ichthyosis.

Publication types

  • Case Reports