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Clinical, molecular, and pathological findings in a Neu-Laxova syndrome stillborn: A Brazilian case report
Thiago R Cavole1, Eduardo Perrone1, Felipe S C Lucena de Castro2
1Department of Medical Genetics, Universidade Federal de Sao Paulo, Sao Paulo, Brazil.
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.
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