Mutation in the X-linked RAB40AL gene (Martin-Probst syndrome) with mental retardation, sensorineural hearing loss, and anomalies of the craniofacies and genitourinary tract: a second case report.

Abstract excerpt

UNLABELLED: An X-linked neurodevelopmental disorder previously had been reported in only one family, associated with a p.D59G mutation in the RAB40AL gene that encodes a mitochondrial Ras protein. The three related males described had varying degrees of cognitive impairment, sensorineural hearing loss, short stature, dysmorphic facies, and other morphological defects. CONCLUSION: We herein present an unrelated...

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