Disease: Mental retardation X-linked short stature obesity
- A Novel Missense Variant in PHF6 Gene Causing Börjeson-Forssman-Lehman Syndrome
- A peculiar subphenotype in the fra(X) syndrome: extreme obesity-short stature-stubby hands and feet-diffuse hyperpigmentation. Further evidence of disturbed hypothalamic function in the fra(X) syndrome?
- A syndromic form of X-linked mental retardation: the Coffin-Lowry syndrome
- Baraitser-Winter cerebrofrontofacial syndrome
- Completely skewed X-inactivation in a mentally retarded young female with pseudohypoparathyroidism type IB and juvenile renin-dependent hypertension
- Congenital hydrocephalus, oligophrenia, dwarfism, centripetal obesity and hypogonadism; an X-linked recessive hereditary illness?
- Downregulation of the GHRH/GH/IGF1 axis in a mouse model of Börjeson-Forssman-Lehman syndrome
- Duplication of the Xq27.3-q28 region, including the FMR1 gene, in an X-linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome
- Five patients with novel overlapping interstitial deletions in 8q22.2q22.3
- 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
- Male pseudohermaphroditism with persistent mullerian structures, mental retardation and Borjeson-Forssman-Lehmann-like features: a new syndrome?
- Mental retardation, distinct facial changes, short stature, obesity, and hypogonadism: a new X-linked mental retardation syndrome
- Microencephalic nanism, severe retardation, hypertonia, obesity, and hypogonadism in two brothers: a new syndrome?
- Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome
- Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor
- The First Korean Case of Baraitser-Winter Cerebro-Fronto-Facial Syndrome with a Novel Mutation in <em>ACTB</em> Diagnosed Via Targeted Gene Panel Sequencing and Literature Review
- 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