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5 / 1000+ resultsresearch Cantú Syndrome Is Caused by Mutations in ABCC9
This study identified heterozygous mutations in the ABCC9 gene as the genetic basis of Cantú syndrome, suggesting the syndrome as a new member of potassium channelopathies.
research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
This study reports the discovery of mutations in the PADI3, TGM3, and TCHH genes as molecular genetic causes of uncombable hair syndrome in children, indicating an autosomal-recessive inheritance pattern.
research Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets
This abstract reviews hereditary vitamin D-resistant rickets, a rare genetic condition causing severe early childhood rickets, and reports no new results; effective treatment typically requires high doses of calcium to address hypocalcemia and secondary hyperparathyroidism.
research Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria
This study identified ABCB6 as the first gene linked to dyschromatosis universalis hereditaria (DUH) in a large Chinese family, suggesting it plays a role in skin pigmentation.
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