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Autosomal recessive congenital ichthyosis due to homozygous variants in NIPAL4 with a dramatic response to ustekinumab.
Poulton, Cathryn; Gration, Dylan; Murray, Kevin; Baynam, Gareth; Halbert, Anne.
Affiliation
  • Poulton C; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia.
  • Gration D; Department of Paediatrics and Neonatology, Fiona Stanley Hospital, Perth, Australia.
  • Murray K; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia.
  • Baynam G; The Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Perth, Australia.
  • Halbert A; Department of Rheumatology, Perth Children's Hospital, Perth, Australia.
Pediatr Dermatol ; 36(6): 1002-1003, 2019 Nov.
Article in En | MEDLINE | ID: mdl-31532840

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ichthyosis, Lamellar / Receptors, Cell Surface / Dermatologic Agents / Ustekinumab Limits: Humans / Infant / Male Language: En Journal: Pediatr Dermatol Year: 2019 Document type: Article Affiliation country: Australia

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ichthyosis, Lamellar / Receptors, Cell Surface / Dermatologic Agents / Ustekinumab Limits: Humans / Infant / Male Language: En Journal: Pediatr Dermatol Year: 2019 Document type: Article Affiliation country: Australia