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| kabuki_syndrome [2025/07/17 00:44] – Scott Larson | kabuki_syndrome [2025/07/17 00:47] (current) – Scott Larson |
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| <WRAP round box> | <WRAP round box> |
| {{::faces-of-mll2-mutation-positive-patients-with-kabuki-syndrome-facial-appearance-of-12.png |}} | {{::faces-of-mll2-mutation-positive-patients-with-kabuki-syndrome-facial-appearance-of-12.png |}} |
| From [[https://link.springer.com/article/10.1007/s00439-011-1004-y| Li, Yun et al (2011). A mutation screen in patients with Kabuki syndrome. Human Genetics. 2011;130:715-24.]] | From reference [4] |
| </WRAP> | </WRAP> |
| * developmental delay and intellectual disability | * developmental delay and intellectual disability |
| * rest unknown | * rest unknown |
| ====Resources==== | ====Resources==== |
| * [[https://pubmed.ncbi.nlm.nih.gov/30514738| Adam MP et al. Kabuki Syndrome: International Consensus Diagnostic Criteria. Journal of Medical Genetics. 2019;56(2):89-95.]] | - [[https://pubmed.ncbi.nlm.nih.gov/30514738| Adam MP et al. Kabuki Syndrome: International Consensus Diagnostic Criteria. Journal of Medical Genetics. 2019;56(2):89-95.]] |
| * [[https://www.ncbi.nlm.nih.gov/books/n/gene/kabuki/ |Adam MP et al. Kubuki Syndrome. GeneReviews]] | - [[https://www.ncbi.nlm.nih.gov/books/n/gene/kabuki/ |Adam MP et al. Kubuki Syndrome. GeneReviews]] |
| * [[https://1drv.ms/b/c/31d83ae8e55e0542/EScVEzibkH9DmuwC53L8axkBSwScQtNUpf0BfXLLhLh_5A?e=BRWE4e | Panneerselvam S. et al. Oculoplastic Operative Considerations for Kabuki Syndrome: A Case Report and Review of the Literature. Ophthalmic Plast Reconstr Surg. 2025;41(3):e104-e106.]] | - [[https://1drv.ms/b/c/31d83ae8e55e0542/EScVEzibkH9DmuwC53L8axkBSwScQtNUpf0BfXLLhLh_5A?e=BRWE4e | Panneerselvam S. et al. Oculoplastic Operative Considerations for Kabuki Syndrome: A Case Report and Review of the Literature. Ophthalmic Plast Reconstr Surg. 2025;41(3):e104-e106.]] |
| | - [[https://link.springer.com/article/10.1007/s00439-011-1004-y| Li, Yun et al (2011). A mutation screen in patients with Kabuki syndrome. Human Genetics. 2011;130:715-24.]] |
| {{tag>syndrome}} | {{tag>syndrome}} |