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