Work

Blepharophimosis plus ovarian failure: a likely candidate for a contiguous gene syndrome.

Year: 1989

Type: article

Abstract: We describe four females from three families with blepharophimosis, epicanthus inversus, and ptosis who were found to have premature ovarian failure. In two families the inheritance was autosomal dominant and in one it was a new mutation. Two females had, in addition, dysmorphic facial features which have been described in other cases. We suggest that the aetiology of the blepharophimosis ovarian failure syndrome is a contiguous gene syndrome.

Source: Journal of Medical Genetics

DOI: 10.1136/jmg.26.7.434

Authors: A Smith, I S Fraser, R P Shearman, P Russell

Institution: New South Wales Department of Health

Language: English

Topic: Ocular Disorders and Treatments

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W2058740378