Search Results - "Selvaraman, Aishwarya"

Assessing Postnatal Mortality in Smith-Lemli-Opitz Syndrome by Selvaraman, Aishwarya, Rahhal, Samar, Bianconi, Simona, Furnary, Tristan, Porter, Forbes D

“…Smith-Lemli-Opitz syndrome (SLOS) is a rare autosomal recessive disorder caused by pathological variants in DHCR7, resulting in a deficiency in the enzyme…”
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Elevated cerebrospinal fluid glial fibrillary acidic protein levels in Smith-Lemli-Opitz syndrome by Luke, Rachel A., Cawley, Niamh X., Rahhal, Samar, Selvaraman, Aishwarya, Thurm, Audrey, Wassif, Christopher A., Porter, Forbes D.

“…Smith-Lemli-Opitz syndrome (SLOS) is a rare, multiple malformation/intellectual disability disorder caused by pathogenic variants of DHCR7. DHCR7 catalyzes the…”
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