Prenatal diagnosis of sideroblastic anemia with immunodeficiency, fevers, and developmental delay in a fetus with severe growth restriction and cardiomegaly.
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Co-Author - Lisa Demers, MS; Presenting Author - Laura Bulmer, MS, CGC; Co-Author - Ryan Cuff, MD; Co-Author - Nicolette Sookar, MSGC; Co-Author - Richard Jones, MD; Co-Author - Barbara Head, MD;
Meta Tag
Congenital Anomaly
Genome sequencing
Mitochondria
Phenotype
Prenatal Diagnosis
Sequencing
Ultrasound
Variant Detection
Co-Author Lisa Demers, MS
Co-Author Ryan Cuff, MD
Co-Author Nicolette Sookar, MSGC
Co-Author Richard Jones, MD
Co-Author Barbara Head, MD
Presenting Author Laura Bulmer, MS, CGC
Keywords
prenatal diagnosis
sideroblastic anemia
immunodeficiency
fevers
developmental delay
SIFD
severe growth restriction
cardiomegaly
TRNT1
tRNA function

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