| 1 | ARCL2B, PYCR1
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| Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.
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| Dimopoulou A, Fischer B, Gardeitchik T, Schröter P, Kayserili H, Schlack C, Li Y, Brum JM, Barisic I, Castori M, Spaich C, Fletcher E, Mahayri Z, Bhat M, Girisha KM, Lachlan K, Johnson D, Phadke S, Gupta N, Simandlova M, Kabra M, David A, Nijtmans L, Chitayat D, Tuysuz B, Brancati F, Mundlos S, Van Maldergem L, Morava E, Wollnik B, Kornak U.
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| Mol Genet Metab 110(3):352-61. doi: 10.1016/j.ymgme.2013.08.009. Epub 2013 Aug 24.
2013
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| 2 | ARCL2B, PYCR1
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| A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family.
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| Lin DS, Yeung CY, Liu HL, Ho CS, Shu CH, Chuang CK, Huang YW, Wu TY, Huang ZD, Jian YR, Lin SP.
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| Am J Med Genet A 155A(6):1285-9. doi: 10.1002/ajmg.a.33963. Epub 2011 May 12.
2011
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| 3 | ARCL2B, PYCR1
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| Recognizable phenotype with common occurrence of microcephaly, psychomotor retardation, but no spontaneous bone fractures in autosomal recessive cutis laxa type IIB due to PYCR1 mutations.
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| Kouwenberg D, Gardeitchik T, Wevers RA, Häberle J, Morava E.
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| Am J Med Genet A 155A(9):2331-2; author reply 2333-4. doi: 10.1002/ajmg.a.34154. Epub 2011 Aug 10. No abstract available.
2011
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| 4 | ARCL2B, PYCR1
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| Mutations in PYCR1 cause cutis laxa with progeroid features.
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| Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, Shboul M, Tham PY, Kayserili H, Al-Gazali L, Shahwan M, Brancati F, Lee H, O'Connor BD, Kegler MS, Merriman B, Nelson SF, Masri A, Alkazaleh F, Guerra D, Ferrari P, Nanda A, Rajab A, Markie D, Gray M, Nelson J, Grix A, Sommer A, Savarirayan R, Janecke AR, Steichen E, Sillence D, Haußer I, Budde B, Nürnberg G, Nürnberg P, Seemann P, Kunkel D, Zambruno G, Dallapiccola B, Schuelke M, Robertson S, Hamamy H, Wollnik B, Van Maldergem L, Mundlos S, Kornak U.
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| Nat Genet at Genet. 2009 Aug 2. [Epub ahead of print]
2009
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| 5 | ARCL2B, PYCR1
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| Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.
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| Guernsey DL, Jiang H, Evans SC, Ferguson M, Matsuoka M, Nightingale M, Rideout AL, Provost S, Bedard K, Orr A, Dubé MP, Ludman M, Samuels ME.
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| Am J Hum Genet 85(1):120-9. Epub 2009 Jul 2.
2009
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