Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis–Cacchione variant of xeroderma pigmentosum

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Human Molecular Genetics, Vol. 9, Iss. 8, 2000-05 ,pp. : 1171-1175

Oxford University Press

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Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene

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Human Molecular Genetics, Vol. 10, Iss. 22, 2001-10 ,pp. : 2539-2547

Oxford University Press

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The Experience of a Tunisian Referral Centre in Prenatal Diagnosis of Xeroderma pigmentosum

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Public Health Genomics, Vol. 16, Iss. 5, 2013-09 ,pp. : 251-254

Karger

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Mouse mutants carrying deletions that remove the genes mutated in Coffin–Lowry syndrome and lactic acidosis

By Blair H.J.   Gormally E.   Uwechue I.C.   Boyd Y.  

Human Molecular Genetics, Vol. 7, Iss. 3, 1998-03 ,pp. : 549-555

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Characterizing the functional consequences of haploinsufficiency of NELF-A ( WHSC2 ) and SLBP identifies novel cellular phenotypes in Wolf–Hirschhorn syndrome

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