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Am J Kidney Dis. 1993 Nov;22(5):641-8.

Alport-leiomyomatosis syndrome: an update.

Author information

1
Department of Pathology, Instituto Nacional de Cardiología Ignacio Chávez, México City, Mexico.

Abstract

Alport-leiomyomatosis syndrome is a polygenic syndrome with a dominant X-linked inheritance pattern resulting from a large deletion in the 5' end of the COL4A5 gene coding for the type IV collagen alpha 5 chains. Hypothetically, the deletion extends beyond the 5' end and probably includes a second contiguous gene responsible for leiomyomatosis (the DL gene) and even a third one coding for congenital cataract (the CCT gene).

PMID:
8238008
[Indexed for MEDLINE]

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