Mild clinical presentation of a patient with a mutation in the NSDHL gene.

Ormerod, E

Mild clinical presentation of a patient with a mutation in the NSDHL gene. [electronic resource] - Clinical and experimental dermatology Jun 2019 - 456-458 p. digital

Publication Type: Case Reports; Journal Article

1365-2230

10.1111/ced.13845 doi


3-Hydroxysteroid Dehydrogenases--genetics
Abnormalities, Multiple--diagnosis
Adult
Diagnostic Errors
Female
Genetic Diseases, X-Linked--diagnosis
Humans
Ichthyosiform Erythroderma, Congenital--diagnosis
Limb Deformities, Congenital--diagnosis
Mutation, Missense
Nevus, Sebaceous of Jadassohn--diagnosis
Phenotype
Severity of Illness Index