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

類似資料

• AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant
  著者:: Szczałuba, Krzysztof, 等
  出版事項: (2020)
• Expanding the phenotype of MTOR-related disorders and the Smith-Kingsmore syndrome
  著者:: Elizondo-Plazas, Anasofia, 等
  出版事項: (2020)
• A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome
  著者:: Rodríguez-García, María Elena, 等
  出版事項: (2019)
• Phenotypic expansion in Zhu‐Tokita‐Takenouchi‐Kim syndrome caused by de novo variants in the SON gene
  著者:: Slezak, Ryszard, 等
  出版事項: (2020)
• A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy – a case report and review of the genotype–phenotype correlation
  著者:: Agnieszka A. Koppolu, 等
  出版事項: (2017-09-01)