Condition: Ichthyosis linearis circumflexa


rs1131691490 in SPINK5 gene and Ichthyosis linearis circumflexa PMID 11841556 2002 Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families.

PMID 11511292 2001 The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis.

PMID 26865388 2016 Intrafamily and Interfamilial Phenotype Variation and Immature Immunity in Patients With Netherton Syndrome and Finnish SPINK5 Founder Mutation.

PMID 22089833 2012 We identified a new and frequent synonymous mutation c.891C>T (p.Cys297Cys) in exon 11 of the 12 NS patients.

PMID 25665175 2015 The c.891C>T synonymous transition in SPINK5 induces exon 11 (E11) skipping and causes Netherton syndrome (NS).

PMID 22377713 2012 We report the functional characterization of a previously unrecognized synonymous variant, c.891C>T (p.Cys297Cys), identified in the SPINK5 exon 11 of an NS patient.