" /> Netherton syndrome - CISMeF





Preferred Label : Netherton syndrome;

Symbol : NETH;

CISMeF acronym : NETH; NS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Comel-netherton syndrome; Netherton disease; NS; Erythroderma, ichthyosiform, with hypotrichosis and hyper-ige;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the serine protease inhibitor, Kazal type, 5 gene (SPINK5, 605010.0001);

Prefixed ID : #256500;

Details


You can consult :


Nous contacter.
02/05/2025


[Home] [Top]

© Rouen University Hospital. Any partial or total use of this material must mention the source.