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RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund-Thomson patient.
Am J Med Genet A. 2003 Jul 30;120A(3):395-9. doi: 10.1002/ajmg.a.20154.
Am J Med Genet A. 2003.
PMID: 12838562
Pure segmental trisomy 1q42-qter in a boy with a severe phenotype.
Percesepe A, Lugli L, Pierluigi M, Cavani S, Malacarne M, Roversi MF, Ferrari F, Forabosco A.
Percesepe A, et al.
Am J Med Genet A. 2007 Oct 1;143A(19):2339-42. doi: 10.1002/ajmg.a.31890.
Am J Med Genet A. 2007.
PMID: 17702013
No abstract available.
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Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: delineation of the phenotype.
Concolino D, Roversi G, Muzzi GL, Sestito S, Colombo EA, Volpi L, Larizza L, Strisciuglio P.
Concolino D, et al.
Am J Med Genet A. 2010 Oct;152A(10):2588-94. doi: 10.1002/ajmg.a.33600.
Am J Med Genet A. 2010.
PMID: 20734427
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