Clinical, molecular, and pathological findings in a Neu-Laxova syndrome stillborn: A Brazilian case report
- 1 June 2020
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 182 (6), 1473-1476
- https://doi.org/10.1002/ajmg.a.61559
Abstract
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.Keywords
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