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SBDS mutations and isochromosome 7q in a patient with Shwachman-Diamond syndrome: no predisposition to malignant transformation?
Cancer Genet Cytogenet. 2004 Oct 15;154(2):144-9. doi: 10.1016/j.cancergencyto.2004.02.001.
Cancer Genet Cytogenet. 2004.
PMID: 15474150
Fetus with an unusual form of nonrhizomelic chondrodysplasia punctata: case report and review.
Wessels MW, Den Hollander NJ, De Krijger RR, Nikkels PG, Brandenburg H, Hennekam R, Willems PJ.
Wessels MW, et al.
Am J Med Genet A. 2003 Jul 1;120A(1):97-104. doi: 10.1002/ajmg.a.20202.
Am J Med Genet A. 2003.
PMID: 12794700
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Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly.
Meuwissen ME, de Vries LS, Verbeek HA, Lequin MH, Govaert PP, Schot R, Cowan FM, Hennekam R, Rizzu P, Verheijen FW, Wessels MW, Mancini GM.
Meuwissen ME, et al.
Neurology. 2011 Mar 1;76(9):844-6. doi: 10.1212/WNL.0b013e31820e7751.
Neurology. 2011.
PMID: 21357838
No abstract available.
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