American journal of medical genetics. Part A
The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome.
Lotte Kleinendorst, Melanie N S Molegraaf, Dorothy K Grange, Rico N P M Rinkel, Mieke M van Haelst
Published: 202610.1002/ajmga.70050
Abstract
Cantú syndrome (CS) is a rare genetic condition caused by pathogenic variants in either ABCC9 or KCNJ8, leading to gain-of-function of KATP-channels. The main clinical features are hypertrichosis and cardiovascular abnormalities. This study investiga…
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