| 1 | HCYS, PREPL
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| PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome.
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| Régal L, Shen XM, Selcen D, Verhille C, Meulemans S, Creemers JW, Engel AG.
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| Neurology. Apr 8;82(14):1254-60. doi: 10.1212/WNL.0000000000000295. Epub 2014 Mar 7. 2014
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| 2 | HCYS, PREPL, SLC3A1, C2orf34
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| Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome.
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| Chabrol B, Martens K, Meulemans S, Cano A, Jaeken J, Matthijs G, Creemers JW.
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| J Med Genet 45(5):314-8. Epub 2008 Jan 30. 2008
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| 3 | SLC3A1, PREPL, HCYS
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| Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome.
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| Martens K, Heulens I, Meulemans S, Zaffanello M, Tilstra D, Hes FJ, Rooman R, Francois I, de Zegher F, Jaeken J, Matthijs G, Creemers JW.
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| Eur J Hum Genet 15(10):1029-1033. Epub 2007 Jun 20. 2007
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| 4 | PREPL, HCYS
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| Deletion of PREPL, a Gene Encoding a Putative Serine Oligopeptidase, in Patients with Hypotonia-Cystinuria Syndrome.
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| Jaeken J, Martens K, Francois I, Eyskens F, Lecointre C, Derua R, Meulemans S, Slootstra JW, Waelkens E, Zegher F, Creemers JW, Matthijs G.
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| Am J Hum Genet 78(1):38-51. Epub 2005 Nov 23. 2006
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| 5 | HCYS,PPM1B,PREPL,SLC3A1
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| The 2p21 deletion syndrome: characterization of the transcription content.
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| Parvari R, Gonen Y, Alshafee I, Buriakovsky S, Regev K, Hershkovitz E.
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| Genomics 86(2):195-211. 2005
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| 6 | HCYS
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| A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease.
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| Parvari R, Brodyansky I, Elpeleg O, Moses S, Landau D, Hershkovitz E.
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| Am J Hum Genet 69(4):869-75. 2001
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