Novel Prenatal Phenotype of Biallelic mutations in SLC5A6; expanding the phenotypic spectrum
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Submitter Only - Erica Schindewolf, MS; Co-Author - Julie Moldenhauer, MD, FACOG, FACMG; Co-Author - Ana Cristancho, MD; Presenting Author - ERICA MA. SCHINDEWOLF, MS, LCGC;
Meta Tag
Brain/Nervous System
Exome sequencing
Prenatal Diagnosis
Co-Author Julie Moldenhauer, MD, FACOG, FACMG
Co-Author Ana Cristancho, MD
Presenting Author ERICA MA. SCHINDEWOLF, MS, LCGC
Submitter Only Erica Schindewolf, MS
Keywords
prenatal phenotype
biallelic mutations
SLC5A6-related disorder
neurocognitive regression
structural brain abnormalities
fetal ventriculomegaly
genetic testing
compound heterozygous variants
whole exome sequencing
prenatal vitamin replacement therapy

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