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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

Related topics

Related topics

9 relations
Autosomal dominant inheritanceChorioretinopathyClass III malocclusionLymphedema (lower extremities)

Broader (4)

FaciesLymphedemaMicrocephalyRetinal Dysplasia

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Altered MR imaging findings in a Japanese female child with PRUNE1-related disorder
2006
2006
Indirect magnetic resonance lymphangiography to assess lymphatic function in experimental murine lymphedema.
BACKGROUND Recently, indirect magnetic resonance lymphangiography with gadolinium (Gd) has been demonstrated to offer the… 
2006
2006
Investigação das causas de atraso no neurodesenvolvimento: recursos e desafios
To verify the reach of development delay investigation, we brought the experience in the pediatrics, infantile neurology and… 
2005
2005
Extreme Microcephaly With Agyria-Pachygyria, Partial Agenesis of the Corpus Callosum, and Pontocerebellar Dysplasia
A 1-year-old boy with extreme microcephaly and a complex brain malformation is reported. Magnetic resonance imaging revealed an… 
Review
1998
Review
1998
Atelencephalic microcephaly: a case report and review of the literature
Abstract Atelencephalic microcephaly is a lethal form of abnormal cerebral development. In atelencephaly there is a rudimentary… 
Highly Cited
1997
Highly Cited
1997
Susceptibility of early life stages of Xenopus laevis to cadmium
The susceptibility of Xenopus laevis to cadmium during different stages of development was evaluated by exposing embryos to… 
Review
1997
Review
1997
Lymphedema praecox seen as isolated unilateral arm involvement: case report and review of the literature.
1997
1997
Flecked chorioretinopathy associated with Birt-Hogg-Dubé syndrome
Abstract• Background: BirtHogg-Dubé's syndrome is a rare skin disease characterized by multiple trichofibromas of the skin and… 
1992
1992
Autosomal recessive microcephaly with early onset seizures and spasticity
We describe two siblings, a male and a female pair, born of consanguineous parents, affected with a rare genetic form of… 
1987
1987
Microcephaly, microphthalmos, and retinal folds: report of a family.
A retarded boy with microcephaly, microphthalmos, and retinal folds is described. His mother and sister showed microphthalmos and… 
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