A SPECTRUM OF PHENOTYPICAL EXPRESSION OF NEU-LAXOVA SYNDROME: Three Case Reports and a Review of the Literature-Reference-Cited by-同舟云学术

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

Published:2010-03 Issue:2 Volume:29 Page:108-119
ISSN:1551-3815
Container-title:Fetal and Pediatric Pathology
language:en
Short-container-title:Fetal and Pediatric Pathology

Author:

Coto-Puckett Wendy L.,Gilbert-Barness Enid,Steelman Charlotte K.,Stuart Tami,Robinson Haynes B.,Shehata Bahig M.

Publisher

Informa UK Limited

Subject

General Medicine,Pathology and Forensic Medicine,Pediatrics, Perinatology, and Child Health

Reference27 articles.

1. Self-Healing Juvenile Cutaneous Mucinosis

2. Neu-Laxova syndrome in an appropriate for gestational age newborn

3. Further comments on the Neu-Laxova syndrome

4. Cerebral abnormalities in the Neu-Laxova syndrome

Cited by 18 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Neu Laxova Syndrome—A Terrifying Disease in Two Siblings With a Novel Variant in PHGDH Gene;Journal of Neonatology;2023-08-28

2. Putting It All Together: Postmortem Diagnosis of a Rare Ichthyosis Syndrome;Cureus;2023-05-09

3. Predicting the functional effect of compound heterozygous genotypes from large scale variant effect maps;2023-01-15

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

5. Clinical, molecular, and pathological findings in a Neu–Laxova syndrome stillborn: A Brazilian case report;American Journal of Medical Genetics Part A;2020-03-20

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