Alport-leiomyomatosis syndrome: an update.
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).
García-Torres
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Department of Pathology, Instituto Nacional de Cardiología Ignacio Chávez, México City, Mexico.
Orozco
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D000293:Adolescent; D000328:Adult; D002386:Cataract; D002648:Child; D002675:Child, Preschool; D004938:Esophageal Neoplasms; D005260:Female; D005833:Genital Neoplasms, Female; D006801:Humans; D007223:Infant; D018231:Leiomyomatosis / Q000235:genetics; D008297:Male; D009394:Nephritis, Hereditary / Q000235:genetics; D012142:Respiratory Tract Neoplasms; D013577:Syndrome