Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due to mutation in a novel gene.
Dattani
M T
MT
Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, London, UK. m.dattani@ich.ucl.ac.uk
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000818:Animals; D019485:Bone Morphogenetic Proteins / Q000235:genetics / Q000378:metabolism; D051524:Fibroblast Growth Factor 8; D005346:Fibroblast Growth Factors / Q000235:genetics / Q000378:metabolism; D015870:Gene Expression / Q000235:genetics*; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D013006:Growth Hormone / Q000172:deficiency / Q000235:genetics; D006801:Humans; D007018:Hypopituitarism / Q000235:genetics; D008297:Male; D051379:Mice; D009154:Mutation; D010641:Phenotype; D010903:Pituitary Gland, Anterior / Q000002:abnormalities* / Q000254:growth & development* / Q000378:metabolism; D025962:Septo-Optic Dysplasia / Q000235:genetics / Q000473:pathology; D015398:Signal Transduction / Q000502:physiology; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism
D019485:Bone Morphogenetic Proteins; C496456:FGF8 protein, human; C496457:Fgf8 protein, mouse; D014157:Transcription Factors; D051524:Fibroblast Growth Factor 8; D005346:Fibroblast Growth Factors; D013006:Growth Hormone