A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype–phenotype correlation
Vlckova, Marketa, Prchalova, Darina, Zimmermann, Pavel, Haberlova, Jana, Bendova, Sarka, Moslerova, Veronika, Stranecky, Viktor, Sedlacek, Zdenek, Hancarova, Miroslava
Published in Molecular genetics & genomic medicine (01.06.2023)
Published in Molecular genetics & genomic medicine (01.06.2023)
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Journal Article
A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B -related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes
Vlckova, Marketa, Simandlova, Martina, Zimmermann, Pavel, Stranecky, Viktor, Hartmannova, Hana, Hodanova, Katerina, Havlovicova, Marketa, Hancarova, Miroslava, Kmoch, Stanislav, Sedlacek, Zdenek
Published in European journal of medical genetics (01.10.2015)
Published in European journal of medical genetics (01.10.2015)
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Journal Article