Clinical, molecular, and pathological findings in a Neu-Laxova syndrome stillborn: A Brazilian case report.
Thiago Rodrigues CavoleEduardo PerroneFelipe S C Lucena de CastroAna B Alvarez PerezAngela Flávia L WaitzbergMirlene C S P CernachPublished in: American journal of medical genetics. Part A (2020)
Neu-Laxova syndrome (NLS) is a lethal genetic multiple congenital anomaly syndrome of unknown prevalence representing the severe spectrum of serine biosynthesis defects associated with PHGDH, PSAT1, or PSP gene mutations. The purpose of this study was to describe clinical/molecular and pathologic features of a NLS case caused by novel heterozygous missense variant in PHGDH gene identified in his consanguineous parents.