Kabuki Syndrome - a case report: Draft of a two-stage diagnostic procedure for verbal children with combined physical and mental disabilities
The case report presents a girl aged 10.5 years who was diagnosed with Kabuki syndrome. The inheritance of this syndrome is autosomal-dominant. The main clinical features include facial stigmata, malformations and congenital organ malformations, short stature and dysphagia. Phenotypic features inclu...
| Main Authors: | , |
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| Format: | Article |
| Language: | ces |
| Published: |
Association of Speech-Language Pathologists of Czech Republic
2023-06-01
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| Series: | Listy klinicke logopedie |
| Online Access: | https://casopis.aklcr.cz/en/artkey/lkl-202301-0001_kabuki-syndrome-a-case-report-draft-of-a-two-stage-diagnostic-procedure-for-verbal-children-with-combined-ph.php |