Blepharophimosis plus ovarian failure: a likely candidate for a contiguous gene syndrome.
AUTOR(ES)
Smith, A
RESUMO
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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1015646Documentos Relacionados
- Visual development in the blepharophimosis syndrome.
- Smith-Magenis syndrome: a new contiguous gene syndrome. Report of three new cases.
- Plus-minus lid syndrome.
- Organisation of the human PAX4 gene and its exclusion as a candidate for the Wolcott-Rallison syndrome.
- Chromosome mapping of Rett syndrome: a likely candidate region on the telomere of Xq.