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| smith-magenis_syndrome [2025/04/18 20:40] – external edit 127.0.0.1 | smith-magenis_syndrome [2025/06/14 02:11] (current) – Scott Larson | ||
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| * [[https:// | * [[https:// | ||
| - | {{: | + | {{: |
| - | {{: | + | From 2. Ophthalmic Manifestations of Smith-Magenis Syndrome. Ophthalmology 1996 |
| * Developmental delay | * Developmental delay | ||
| * Cognitive impairment | * Cognitive impairment | ||
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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> | ||