Clinical, molecular, and pathological findings in a Neu-Laxova syndrome stillborn: A Brazilian case report.

Autor: Cavole TR; Department of Medical Genetics, Universidade Federal de Sao Paulo, Sao Paulo, Brazil., Perrone E; Department of Medical Genetics, Universidade Federal de Sao Paulo, Sao Paulo, Brazil., Lucena de Castro FSC; Department of Pathology, Universidade Federal de Sao Paulo, Sao Paulo, Brazil., Alvarez Perez AB; Department of Medical Genetics, Universidade Federal de Sao Paulo, Sao Paulo, Brazil., Waitzberg AFL; Department of Pathology, Universidade Federal de Sao Paulo, Sao Paulo, Brazil., Cernach MCSP; Department of Medical Genetics, Universidade Metropolitana de Santos, Sao Paulo, Brazil.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2020 Jun; Vol. 182 (6), pp. 1473-1476. Date of Electronic Publication: 2020 Mar 20.
DOI: 10.1002/ajmg.a.61559
Abstrakt: 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.
(© 2020 Wiley Periodicals, Inc.)
Databáze: MEDLINE
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