Status dystonicus, hyperpyrexia, and acute kidney injury in a patient with SOX2-anophthalmia syndrome

Am J Med Genet A. 2019 Jul;179(7):1395-1397. doi: 10.1002/ajmg.a.61144. Epub 2019 Apr 4.

Authors

Edmundo Martinez¹, Erik C Madsen¹

Affiliation

¹ Division of Critical Care, Department of Pediatrics, Saint Louis University and Cardinal Glennon Children's Hospital, St. Louis, Missouri.

PMID: 30945433
DOI: 10.1002/ajmg.a.61144

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Acute Kidney Injury / genetics*
Anophthalmos / genetics*
Body Temperature*
Developmental Disabilities / genetics*
Female
Humans
Infant, Newborn
SOXB1 Transcription Factors / genetics*

Substances

SOX2 protein, human
SOXB1 Transcription Factors