X-linked alpha thalassaemia/mental retardation syndrome: a case with gonadal dysgenesis, caused by a novel mutation in ATRX gene.
Jezela-Stanek
Aleksandra
A
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.
Fisher
Chris
C
Szarras-Czapnik
Maria
M
Olczak-Kowalczyk
Dorota
D
Gibbons
Richard J
RJ
Słowikowska-Hilczer
Jolanta
J
Krajewska-Walasek
Małgorzata
M
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*
D009687:Nuclear Proteins; D004265:DNA Helicases; C092332:ATRX protein, human; D000075924:X-linked Nuclear Protein