Novel SPINK5 variants in a patient with Netherton syndrome and intellectual disability. The diagnostic value of trichoscopy

G Ital Dermatol Venereol. 2020 Apr;155(2):239-240. doi: 10.23736/S0392-0488.18.05931-X. Epub 2018 May 16.

Authors

Carmelo Schepis¹, Pinella Failla², Maddalena Siragusa³, Mirella Vinci⁴, Francesco Calì⁴

Affiliations

¹ Unit of Dermatology, Oasi Research Institute-IRCCS, Troina, Enna, Italy - [email protected].
² Unit of Pediatrics and Medical Genetics, Oasi Research Institute-IRCCS, Troina, Enna, Italy.
³ Unit of Dermatology, Oasi Research Institute-IRCCS, Troina, Enna, Italy.
⁴ Laboratory of Molecular Genetics, Oasi Research Institute-IRCCS, Troina, Enna, Italy.

PMID: 29781262
DOI: 10.23736/S0392-0488.18.05931-X

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Dermoscopy
Humans
Infant
Intellectual Disability / diagnosis*
Intellectual Disability / genetics
Male
Netherton Syndrome / diagnosis*
Netherton Syndrome / genetics
Serine Peptidase Inhibitor Kazal-Type 5 / genetics*

Substances

SPINK5 protein, human
Serine Peptidase Inhibitor Kazal-Type 5