Clinical, molecular, and pathological findings in a Neu–Laxova syndrome stillborn: A Brazilian case report-Reference-Cited by-同舟云学术

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

Published:2020-03-20 Issue:6 Volume:182 Page:1473-1476
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Cavole Thiago R.¹^ORCID,Perrone Eduardo¹^ORCID,Lucena de Castro Felipe S. C.²,Alvarez Perez Ana B.¹,Waitzberg Angela Flávia L.²,Cernach Mirlene C. S. P.³

Affiliation:

1. Department of Medical GeneticsUniversidade Federal de Sao Paulo Sao Paulo Brazil

2. Department of PathologyUniversidade Federal de Sao Paulo Sao Paulo Brazil

3. Department of Medical GeneticsUniversidade Metropolitana de Santos Sao Paulo Brazil

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61559

Reference18 articles.

1. Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway

2. Prenatal diagnosis of Neu-Laxova syndrome: a case report

3. Neu-Laxova syndrome presenting prenatally with increased nuchal translucency and cystic hygroma: The utility of exome sequencing in deciphering the diagnosis

4. Neu-Laxova Syndrome

5. A SPECTRUM OF PHENOTYPICAL EXPRESSION OF NEU-LAXOVA SYNDROME: Three Case Reports and a Review of the Literature

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3. Disorders of Glutamine, Serine and Asparagine Metabolism;Inborn Metabolic Diseases;2022

4. Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease;Nature Metabolism;2021-03

5. Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders;Human Mutation;2020-07-15