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Lymphedema, microcephaly and chorioretinopathy syndrome

Known as: CDMMR SYNDROME, Microcephaly, Lymphedema, Chorioretinal Dysplasia Syndrome, MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION, AUTOSOMAL DOMINANT 
National Institutes of Health

Papers overview

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2006
2006
BACKGROUND Recently, indirect magnetic resonance lymphangiography with gadolinium (Gd) has been demonstrated to offer the… 
2006
2006
To verify the reach of development delay investigation, we brought the experience in the pediatrics, infantile neurology and… 
2005
2005
A 1-year-old boy with extreme microcephaly and a complex brain malformation is reported. Magnetic resonance imaging revealed an… 
Review
1998
Review
1998
Abstract Atelencephalic microcephaly is a lethal form of abnormal cerebral development. In atelencephaly there is a rudimentary… 
Highly Cited
1997
Highly Cited
1997
The susceptibility of Xenopus laevis to cadmium during different stages of development was evaluated by exposing embryos to… 
1997
1997
Abstract• Background: BirtHogg-Dubé's syndrome is a rare skin disease characterized by multiple trichofibromas of the skin and… 
1992
1992
We describe two siblings, a male and a female pair, born of consanguineous parents, affected with a rare genetic form of… 
1987
1987
A retarded boy with microcephaly, microphthalmos, and retinal folds is described. His mother and sister showed microphthalmos and…