Fetal MRI and ultrasound findings of a confirmed asparagine synthetase deficiency case

Prenat Diagn. 2020 Sep;40(10):1343-1347. doi: 10.1002/pd.5772. Epub 2020 Jul 19.

Authors

Lauren E Churchill¹, Paula R Delk¹, Theodore E Wilson¹, Wilfredo Torres-Martinez¹, Caroline E Rouse², Megan B Marine³, Julie L Piechan²

Affiliations

¹ Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.
² Prenatal Diagnosis Center, Indiana University Health, Indianapolis, Indiana, USA.
³ Radiology and Imaging Sciences, Indiana University School of Medicine, Indianapolis, Indiana, USA.

PMID: 32564386
DOI: 10.1002/pd.5772

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adult
Aspartate-Ammonia Ligase / deficiency*
Aspartate-Ammonia Ligase / genetics
Child, Preschool
Diagnosis
Female
Fetus / diagnostic imaging*
Humans
Indiana
Intellectual Disability / diagnosis
Intellectual Disability / genetics
Intellectual Disability / pathology
Magnetic Resonance Imaging
Male
Microcephaly / diagnosis*
Microcephaly / genetics
Microcephaly / pathology
Parity
Pregnancy
Pregnancy Trimester, Second

Substances

Aspartate-Ammonia Ligase