descriptionPublicationkeyboard_double_arrow_right Article 01 Feb 1978 English Publisher:BMJJournal:Journal of Medical Genetics, volume 15, pages 63-66 (issn: 0022-2593, eissn: 1468-6244,

Authors: F T, Weber; J L, Frias; R L, Julius; A H, Felman;

doi: 10.1136/jmg.15.1.63

pmid: 564968

pmc: PMC1012825

Primary hypogonadism in the Borjeson-Forssman-Lehmann syndrome.

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Abstract

A 28-year-old man with mental retardation and multiple congenital malformations was found to have the classical features of Borjeson-Forssman-Lehmann syndrome. Endocrine evaluations showed primary hypogonadism as the underlying endocrine abnormality rather than hypopituitarism as suggested in earlier reports.

Related Organizations

Clinical Science Institute
United States
Royal Victoria Eye and Ear Hospital
Ireland
Queen's University Belfast
United Kingdom
Trinity College Dublin
Ireland

Keywords

Adult, Male, X Chromosome, Hypogonadism, Genes, Recessive, Syndrome, Face, Intellectual Disability, Microcephaly, Humans, Female

22 Research products, page 1 of 3

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Primary hypogonadism in the Borjeson-Forssman-Lehmann syndrome.

Primary hypogonadism in the Borjeson-Forssman-Lehmann syndrome.

22 Research products, page 1 of 3

The Börjeson‐Forssman‐Lehmann syndrome

The clinical picture of the Börjeson–Forssman–Lehmann syndrome in males and heterozygous females with PHF6 mutations

Borjeson-Forssman-Lehmann syndrome in a girl

Mutation screening in Börjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient

Protein and gene expression analysis of Phf6, the gene mutated in the Börjeson–Forssman–Lehmann Syndrome of intellectual disability and obesity

Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome

A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome

Characterization of a Mouse Model of Börjeson-Forssman-Lehmann Syndrome

B�rjeson-Forssman-Lehmann syndrome in a woman with skewed X-chromosome inactivation

A novel PHF6 mutation results in enhanced exon skipping and mild Börjeson-Forssman-Lehmann syndrome