HIGHLIGHTS
- who: . et al. from the United States Kagoshima University, Japan have published the Article: Juvenile-onset PSAT1 -related neuropathy: A milder phenotype of serine de ciency disorder, in the Journal: (JOURNAL)
- what: PSAT1 was subsequently investigated as a candidate gene for serine metabolic dysfunction, and mutations in PSAT1 were found in six individuals with Neu-Laxova syndrome (Acuna-Hidalgo, et_al, 2014).In this study, the authors reported two independent patients with the same homozygous mutation who presented with ichthyosis of variable severity and juvenile-onset peripheral neuropathy. The study expanded the clinical spectrum of PSAT1 . . .
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