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- Title
The Genetics Corner: Pathogenic variants in DOCK6 mimic congenital viral infection in an SGA infant with VSD and intracranial calcifications.
- Authors
Ramanathan, Subhadra; Clark, Robin D.
- Abstract
Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. Peer Reviewed Subhadra Ramanathan, Robin D. Clark, MD Case Summary: This baby girl was born to an 18-year old primigravida at 35 weeks three days' gestation by planned induction of labor for oligohydramnios and IUGR.
- Subjects
GENETICS; VIRUS diseases; INFANTS; CALCIFICATION; NUCLEOTIDE exchange factors; VENTRICULAR septal defects; BRAIN; AMNIOTIC liquid; GENE expression; PREGNANCY complications; SMALL for gestational age
- Publication
Neonatology Today, 2021, Vol 16, Issue 4, p124
- ISSN
1932-7129
- Publication type
Article