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| smith-magenis_syndrome [2025/06/14 02:07] – Scott Larson | smith-magenis_syndrome [2025/06/14 02:11] (current) – Scott Larson | ||
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| * Heterozygous deletion at chromosome 17p11.2 that includes RAI1 or a heterozygous intragenic RAI1 pathogenic variant. | * Heterozygous deletion at chromosome 17p11.2 that includes RAI1 or a heterozygous intragenic RAI1 pathogenic variant. | ||
| ==== References ==== | ==== References ==== | ||
| - | - [[https:// | + | - [[https:// |
| - | - {{:ophthalmic_manifestations_of_smith-magenis_syndrome_1996.pdf|Ophthalmic Manifestations of Smith-Magenis Syndrome. Ophthalmology 1996}} | + | - [[https://1drv.ms/ |
| {{tag> | {{tag> | ||