| Autor: |
Jezela‐Stanek, Aleksandra, Szczepanik, Elżbieta, Mierzewska, Hanna, Rydzanicz, Małgorzata, Rutkowska, Karolina, Knaus, Alexej, Śmigiel, Robert, Stępniak, Iwona, Markiewicz, Michał G., Boniel, Snir, Krawitz, Peter, Płoski, Rafał |
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| Zdroj: |
Clinical Genetics; Nov2020, Vol. 98 Issue 5, p468-476, 9p |
| Abstrakt: |
PIGT is one of over 29 glycosylphosphatidylinositol biosynthesis defect genes. Mutations cause genetically determined disorders characterized mainly by epilepsy with fever‐sensitivity, central hypotonia, psychomotor delay and congenital malformations. The disease is known as multiple congenital anomalies‐hypotonia‐seizures syndrome 3 (MCAHS3) or glycosylphosphatidylinositol biosynthesis defect‐7. Twenty‐eight cases have been reported until today. We present seven novel Polish patients, all harboring 1582G>A variant in a homozygous or compound heterozygous state which seems to cause a milder phenotype of the disease. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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