title: Identification and clinical consequences of a novel mutation in the gene for transglutaminase 1 in a patient with lamellar ichthyosis.
authors.affiliation: Department of Clinical Genetics, Pomorska, Lodz, Poland. michal.pietrusinski@umed.lodz.pl.
authors.forename: M
authors.initials: M
authors.lastname: Pietrusiński
authors.affiliation: Department of Pediatrics, Preventive Cardiology and Immunology, Pomorska, Lodz, Poland.
authors.forename: A
authors.initials: A
authors.lastname: Stańczyk-Przyłuska
authors.affiliation: Department of Pediatric Propedeutics and Bone Metabolism Disease, Pomorska, Lodz, Poland.
authors.forename: D
authors.initials: D
authors.lastname: Chlebna-Sokól
authors.affiliation: Department of Clinical Genetics, Pomorska, Lodz, Poland.
authors.forename: E
authors.initials: E
authors.lastname: Borkowska
authors.affiliation: Department of Clinical Genetics, Pomorska, Lodz, Poland.
authors.forename: B
authors.initials: B
authors.lastname: Kalużewski
authors.affiliation: Department of Clinical Genetics, Pomorska, Lodz, Poland.|Department of Paediatrics, Oncology, Haematology and Diabetology, Medical University of Lodz, Pomorska, 251, 92-213, Lodz, Poland.
authors.forename: M
authors.initials: M
authors.lastname: Borowiec
mesh_terms: D005260:Female; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000235:genetics*; D007231:Infant, Newborn; D009154:Mutation; D012176:Retinoids / Q000627:therapeutic use; D011503:Transglutaminases / Q000235:genetics*; D016896:Treatment Outcome
chemical_list: D012176:Retinoids; D011503:Transglutaminases; C105804:transglutaminase 1