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Clinical, molecular, and pathological findings in a Neu–Laxova syndrome stillborn: A Brazilian case report
Author(s) -
Cavole Thiago R.,
Perrone Eduardo,
Lucena de Castro Felipe S. C.,
Alvarez Perez Ana B.,
Waitzberg Angela Flávia L.,
Cernach Mirlene C. S. P.
Publication year - 2020
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61559
Subject(s) - missense mutation , pathological , genetics , gene , serine , mutation , nls , biology , medicine , pathology , nuclear localization sequence , phosphorylation
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.