Novel mutations in TRPM6 gene associated with primary hypomagnesemia with secondary hypocalcemia. Case report
Background. Primary hypomagnesemia with secondary hypocalcemia (HSH) is a rare genetic disorder. Dysfunctional transient receptor potential melastatin 6 causes impaired intestinal absorption of magnesium, leading to low serum levels accompanied by hypocalcemia. Typical signs at initial manifestation...
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Auteurs principaux: | Jan Papez, Jiri Starha, Katerina Slaba, Jaroslav A Hubacek, Jakub Pecl, Stefania Aulicka, Milan Urik, Serdar Ceylaner, Petra Vesela, Ondrej Slaby, Petr Jabandziev |
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Format: | article |
Langue: | EN |
Publié: |
Palacký University Olomouc, Faculty of Medicine and Dentistry
2021
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Accès en ligne: | https://doaj.org/article/41128d7da2d14bd8b8c01741231cabd0 |
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