Netherton Syndrome with Extensive Skin Peeling and Failure to Thrive due to a Homozygous Frameshift Mutation in SPINK5

Adam S. Geyer,Paulina Ratajczak,Marlyanne Pol-Rodriguez,William S. Millar,Maria C. Garzon,Gabriele Richard

Netherton Syndrome with Extensive Skin Peeling and Failure to Thrive due to a Homozygous Frameshift Mutation in SPINK5

2005

Adam S. Geyer
Paulina Ratajczak
Marlyanne Pol-Rodriguez
William S. Millar
Maria C. Garzon
Gabriele Richard

Background: Netherton syndrome (NTS) is a rare autosomal recessive multisystem disorder characterized by congenital erythroderma and ichthyosis, hair shaft abnormalities and immune

Keywords:

Frameshift mutation
Dermatology
Erythroderma
Pathology
Failure to thrive
Netherton syndrome
Dominance (genetics)
Ichthyosis
Peeling skin syndrome
Medicine
Hyperkeratosis

Correction
Source
Cite
Save
Machine Reading By IdeaReader

References

Citations