TY  - GEN
AU  - Ormerod,E
AU  - Bownass,L
AU  - Smithson,S
AU  - Zhang,Y
AU  - Dunnill,M G S
TI  - Mild clinical presentation of a patient with a mutation in the NSDHL gene
SN  - 1365-2230
PY  - 2019///1224
KW  - 3-Hydroxysteroid Dehydrogenases
KW  - genetics
KW  - Abnormalities, Multiple
KW  - diagnosis
KW  - Adult
KW  - Diagnostic Errors
KW  - Female
KW  - Genetic Diseases, X-Linked
KW  - Humans
KW  - Ichthyosiform Erythroderma, Congenital
KW  - Limb Deformities, Congenital
KW  - Mutation, Missense
KW  - Nevus, Sebaceous of Jadassohn
KW  - Phenotype
KW  - Severity of Illness Index
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1111/ced.13845
ER  -