Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal-onset Cockayne syndrome features

2018 ◽  
Vol 94 (3-4) ◽  
pp. 386-388
Author(s):  
R. Ricotti ◽  
T. Nardo ◽  
P. Striano ◽  
M. Stefanini ◽  
D. Orioli ◽  
...  
Keyword(s):  
Xeroderma Pigmentosum ◽  
Phenotypic Variability ◽  
Cockayne Syndrome ◽  
Uncommon Case ◽  
Xeroderma Pigmentosum Group G

scholarly journals Xeroderma Pigmentosum Group G with Severe Neurological Involvement and Features of Cockayne Syndrome in Infancy

2001 ◽  
Vol 49 (3) ◽  
pp. 407-412 ◽  
Author(s):  
Dimitrios I Zafeiriou ◽  
Fabrizio Thorel ◽  
Alexander Andreou ◽  
Wim J Kleijer ◽  
Anja Raams ◽  
...  
Keyword(s):  
Xeroderma Pigmentosum ◽  
Cockayne Syndrome ◽  
Neurological Involvement ◽  
Xeroderma Pigmentosum Group G

Heritable genetic alterations in a xeroderma pigmentosum group G/Cockayne syndrome pedigree

1997 ◽  
Vol 385 (2) ◽  
pp. 107-114 ◽  
Author(s):  
Richard T Okinaka ◽  
Ana V Perez-Castro ◽  
Anthony Sena ◽  
Kevin Laubscher ◽  
Gary F Strniste ◽  
...  
Keyword(s):  
Xeroderma Pigmentosum ◽  
Genetic Alterations ◽  
Cockayne Syndrome ◽  
Xeroderma Pigmentosum Group G

scholarly journals An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria

Cancer Cell ◽  
2006 ◽  
Vol 10 (2) ◽  
pp. 121-132 ◽  
Author(s):  
Jaan-Olle Andressoo ◽  
James R. Mitchell ◽  
Jan de Wit ◽  
Deborah Hoogstraten ◽  
Marcel Volker ◽  
...  
Keyword(s):  
Mouse Model ◽  
Xeroderma Pigmentosum ◽  
Cockayne Syndrome ◽  
Cancer Predisposition
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