Possible third case of Lin-Gettig syndrome

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Clinical Report Possible Third Case of Lin-Gettig Syndrome

We report a patient with craniosynostosis, severe mental retardation, absence of the corpus callosum, camptodactyly, hypogonadism, and ventricular septal defect. We propose that he has Lin-Gettig syndrome and that he is the third reported patient with this entity. Our patient also had additional phenotypic features, including palatal cleft and absent rapid eye movement (REM) sleep that were not...

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ژورنال

عنوان ژورنال: American Journal of Medical Genetics

سال: 2002

ISSN: 0148-7299,1096-8628

DOI: 10.1002/ajmg.10460