Case Reports
doi: 10.1002/ajmg.a.20375.
Long-term follow-up of three individuals with Kabuki syndrome
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- PMID: 14981723
- DOI: 10.1002/ajmg.a.20375
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Case Reports
Long-term follow-up of three individuals with Kabuki syndrome
Am J Med Genet A.
.
Abstract
Long-term follow-up of three individuals with Kabuki syndrome indicates their phenotype becomes less striking as adults. It is characterized by short stature, obesity, and relatively large head. Long palpebral fissures persist, as does mild to moderate mental retardation. Independent daily living skills are achieved but a sheltered living environment is needed.
Copyright 2003 Wiley-Liss, Inc.
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