Birt-Hogg-Dubé symptoms in Smith-Magenis syndrome include pediatric-onset pneumothorax
- PMID: 33666332
- PMCID: PMC9540435
- DOI: 10.1002/ajmg.a.62159
Birt-Hogg-Dubé symptoms in Smith-Magenis syndrome include pediatric-onset pneumothorax
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References
-
- Finucane B & Haas-Givler B (2009). Smith-Magenis syndrome: Genetic basis and clinical implications. Journal of Mental Health Research in Intellectual Disabilities, 2(2), 134–148. 10.1080/19315860802627619 - DOI
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