Triple-A Syndrome (TAS): an in-depth overview on genetic and phenotype heterogeneity.
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DOI: 10.2174/0929866527666200613215449
Abstract: Triple-A Syndrome (TAS) is a rare autosomal recessive disorder characterized by three cardinal symptoms: alacrimia, achalasia and adrenal insufficiency due to ACTH insensitivity. Various progressive neurological abnormalities and skin changes have been described in association… read more here.
Keywords: phenotype; depth overview; tas depth; triple syndrome ... See more keywords