| 1 | MRT42, PGAP1
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| Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review.
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| Kettwig M, Elpeleg O, Wegener E, Dreha-Kulaczewski S, Henneke M, Gärtner J, Huppke P.
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| BMC Neurol 16:74. doi: 10.1186/s12883-016-0602-7. Review.
2016
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| 2 | MRT42, PGAP1
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| Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline.
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| Granzow M, Paramasivam N, Hinderhofer K, Fischer C, Chotewutmontri S, Kaufmann L, Evers C, Kotzaeridou U, Rohrschneider K, Schlesner M, Sturm M, Pinkert S, Eils R, Bartram CR, Bauer P, Moog U.
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| Mol Cell Probes 29(5):323-9. doi: 10.1016/j.mcp.2015.05.012. Epub 2015 Jun 4.
2015
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| 3 | MRT42, PGAP1
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| Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy.
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| Williams C, Jiang YH, Shashi V, Crimian R, Schoch K, Harper A, McHale D, Goldstein D, Petrovski S.
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| Clin Genet 88(6):597-9. doi: 10.1111/cge.12581. Epub 2015 Mar 30. No abstract available.
2015
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| 4 | MRT42, PGAP1
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| Cerebral visual impairment and intellectual disability caused by PGAP1 variants.
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| Bosch DG, Boonstra FN, Kinoshita T, Jhangiani S, de Ligt J, Cremers FP, Lupski JR, Murakami Y, de Vries BB.
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| Eur J Hum Genet 23(12):1689-93. doi: 10.1038/ejhg.2015.42. Epub 2015 Mar 25.
2015
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