title: X-linked alpha thalassaemia/mental retardation syndrome: a case with gonadal dysgenesis, caused by a novel mutation in ATRX gene.
authors.affiliation: Departments of Medical Genetics Endocrinology Oral Pathology, The Children's Memorial Health Institute, Warsaw Department of Andrology and Reproductive Endocrinology, Institute of Endocrinology, Medical University of Lodz, Lodz, Poland MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK.
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Jezela-Stanek
authors.forename: Chris
authors.initials: C
authors.lastname: Fisher
authors.forename: Maria
authors.initials: M
authors.lastname: Szarras-Czapnik
authors.forename: Dorota
authors.initials: D
authors.lastname: Olczak-Kowalczyk
authors.forename: Richard J
authors.initials: RJ
authors.lastname: Gibbons
authors.forename: Jolanta
authors.initials: J
authors.lastname: Słowikowska-Hilczer
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Krajewska-Walasek
mesh_terms: D004265:DNA Helicases / Q000235:genetics*; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D000075924:X-linked Nuclear Protein; D017085:alpha-Thalassemia / Q000235:genetics*
chemical_list: D009687:Nuclear Proteins; D004265:DNA Helicases; C092332:ATRX protein, human; D000075924:X-linked Nuclear Protein