Brain Tissue Low-Level Mosaicism for MTOR Mutation Causes Smith-Kingsmore Phenotype

Brain Tissue Low-Level Mosaicism for MTOR Mutation Causes Smith-Kingsmore Phenotype with Recurrent Hypoglycemia-A Novel Phenotype and a Further Proof for Testing of an Affected Tissue.

Szczałuba K, Rydzanicz M, Walczak A, Kosińska J, Koppolu A, Biernacka A, Iwanicka-Pronicka K, Grajkowska W, Jurkiewicz E, Kowalczyk P, Płoski R.

Diagnostics (Basel). 2021 Jul 15;11(7):1269. doi: 10.3390/diagnostics11071269.

PMID: 34359351