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Adult phenotype of the homozygous missense mutation c.655G>A, p.Gly219Arg in SLC13A5: A case report

Maria Arvio1,2,3,4, Jaana Lähdetie2

  • 1KTO-Special Welfare District of Varsinais-Suomi, Paimio, Finland.

American Journal of Medical Genetics. Part A
|November 17, 2020
PubMed

Keywords:
Kohlschutter-Tonz syndromeSLC13A5-geneepileptic encephalopathy subtype 25 (OMIM 615905)

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