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Article

ARHGEF9 disease

27 May 2017

Abstract excerpt

OBJECTIVE: mutations. METHODS: were identified through our clinics and review of the literature. Detailed medical history and examination findings were obtained via a standardized questionnaire, or if this was not possible by reviewing the published phenotypic features. RESULTS: A total of 18 patients (including 5 females) were identified. Six had de novo, 5 had maternally inherited mutations, and 7 had...

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PMID: 28589176
DOI: 10.1212/nxg.0000000000000148

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