Mild clinical presentation of a patient with a mutation in the NSDHL gene. [electronic resource]
Producer: 20191224Description: 456-458 p. digitalISSN:- 1365-2230
- 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
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Publication Type: Case Reports; Journal Article
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