Associated Papers
Exploring Recent Developments in the Manifestation, Diagnosis, and Treatment of Patients with Smith-Lemli-Opitz Syndrome: From Molecular Pathways to Clinical Innovations.
Żukowska A et al.
International Journal of Molecular Sciences, 2025
Keeping you on your toes: Smith-Lemli-Opitz Syndrome is an easily missed cause of developmental delays.
Coupe S et al.
Clinical Case Reports, 2023
Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum.
Moosa S et al.
Clinical Genetics, 2017
Genotype-based databases for variants causing rare diseases.
Lanthaler B et al.
Gene, 2014
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