ArticleEuropean journal of pediatrics2014
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.
Article in European journal of pediatrics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 5 citations in OpenAlex.
- A Rab-bit hole: Rab40 GTPases as new regulators of the actin cytoskeleton and cell migration.Frontiers in cell and developmental biology · 2023Review
- X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.Molecular psychiatry · 2016Article
- A note of caution on the diagnosis of Martin-Probst syndrome by the detection of the p.D59G mutation in the RAB40AL gene.European journal of pediatrics · 2015Article
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Authors and funding
3 authors at 3 institutions in 1 country.
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Abstract
unlabelledAn 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.
conclusionWe herein present an unrelated 20-year-old male with similar manifestations also with p.D59G in the RAB40AL gene, which supports the existence of this condition previously coined as Martin-Probst syndrome (OMIM: 300519).
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