Prenatal genetic diagnosis of Neu-Laxova syndrome

J Obstet Gynaecol. 2018 Apr;38(3):413-414. doi: 10.1080/01443615.2017.1343811. Epub 2017 Sep 14.

Authors

Amber M Wood¹, Amy T Mottola¹, Eleanor H Rhee¹, Jeffrey A Kuller¹

Affiliation

¹ a Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine , Duke University Medical Center , Durham , NC , USA.

PMID: 28903583
DOI: 10.1080/01443615.2017.1343811

No abstract available

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / diagnosis*
Abnormalities, Multiple / genetics
Brain Diseases / diagnosis*
Brain Diseases / genetics
Chorionic Villi Sampling
Consanguinity
Female
Fetal Growth Retardation / diagnosis*
Fetal Growth Retardation / genetics
Genetic Testing*
Gestational Age
Homozygote
Humans
Ichthyosis / diagnosis*
Ichthyosis / genetics
India
Karyotype
Limb Deformities, Congenital / diagnosis*
Limb Deformities, Congenital / genetics
Microcephaly / diagnosis*
Microcephaly / genetics
Nuchal Translucency Measurement
Pedigree
Phosphoglycerate Dehydrogenase / genetics
Point Mutation
Prenatal Diagnosis / methods*
Ultrasonography, Prenatal
Young Adult

Substances

Phosphoglycerate Dehydrogenase

Supplementary concepts

Neu Laxova syndrome