Associated Papers
The Clinical Spectrum of Rare Inherited Ichthyosis in China: A Review of Thirty-five Cases.
Xiang R et al.
Acta Dermato-venereologica, 2025
The role of SPINK5 mutation distribution in phenotypes of Netherton syndrome.
Xu M et al.
Frontiers in Genetics, 2025
Atopic Dermatitis-like Genodermatosis: Disease Diagnosis and Management.
Pan C et al.
Diagnostics (basel, Switzerland), 2022
A novel mutation in SPINK5 gene underlies a case of atypical Netherton syndrome.
Wang Y et al.
Frontiers in Genetics, 2022
The challenging management of a series of 43 infants with Netherton syndrome: unexpected complications and novel mutations.
Bellon N et al.
The British Journal of Dermatology, 2021
A novel SPINK5 donor splice site variant in a child with Netherton syndrome.
Mintoff D et al.
Molecular Genetics & Genomic Medicine, 2021
Netherton Syndrome: A Genotype-Phenotype Review.
Sarri CA et al.
Molecular Diagnosis & Therapy, 2017
Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventional intronic mutations.
Lacroix M et al.
The Journal of Investigative Dermatology, 2012
Genetic susceptibility to atopic dermatitis.
Kiyohara C et al.
Allergology International : Official Journal of the Japanese Society of Allergology, 2008
Corneodesmosomal cadherins are preferential targets of stratum corneum trypsin- and chymotrypsin-like hyperactivity in Netherton syndrome.
Descargues P et al.
The Journal of Investigative Dermatology, 2006
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families.
Bitoun E et al.
The Journal of Investigative Dermatology, 2002
Prenatal diagnosis of a lethal form of Netherton syndrome by SPINK5 mutation analysis.
Bitoun E et al.
Prenatal Diagnosis, 2002
Lethal Netherton syndrome due to homozygous p.Arg371X mutation in SPINK5.
Diociaiuti A et al.
Pediatric Dermatology, 0
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