Disease: Mental retardation gynecomastia obesity X-linked
- A Novel Missense Variant in PHF6 Gene Causing Börjeson-Forssman-Lehman Syndrome
- Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families
- De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia
- Duplication of the Xq27.3-q28 region, including the FMR1 gene, in an X-linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome
- Further clinical delineation of the Börjeson-Forssman-Lehmann syndrome in patients with PHF6 mutations
- Inherited Xq13.2-q21.31 duplication in a boy with recurrent seizures and pubertal gynecomastia: Clinical, chromosomal and aCGH characterization
- New X-linked syndrome of mental retardation, gynecomastia, and obesity is linked to DXS255
- New X-linked syndrome of mental retardation, gynecomastia, and obesity is linked to DXS255
- The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations
- Transgenic mice with an R342X mutation in Phf6 display clinical features of Börjeson-Forssman-Lehmann Syndrome
- X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face
- X-linked hypogonadism, gynecomastia, mental retardation, short stature, and obesity--a new syndrome