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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
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National Institutes of Health
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Related topics
Related topics
9 relations
Autosomal dominant inheritance
Chorioretinopathy
Class III malocclusion
Lymphedema (lower extremities)
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Broader (4)
Facies
Lymphedema
Microcephaly
Retinal 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
H. Fujii
,
N. Sato
,
+6 authors
H. Sugimoto
Brain & development (Tokyo. )
2019
Corpus ID: 209466698
2006
2006
Indirect magnetic resonance lymphangiography to assess lymphatic function in experimental murine lymphedema.
Daoyong Pan
,
Yoriyasy Suzuki
,
Phillip C. Yang
,
S. Rockson
Lymphatic Research and Biology
2006
Corpus ID: 19259023
BACKGROUND Recently, indirect magnetic resonance lymphangiography with gadolinium (Gd) has been demonstrated to offer the…
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2006
2006
Investigação das causas de atraso no neurodesenvolvimento: recursos e desafios
Luiza Helena Acerbi Caram
,
C. Funayama
,
Cleide Iris Spina
,
L. Giuliani
,
J. M. P. Neto
2006
Corpus ID: 72882910
To verify the reach of development delay investigation, we brought the experience in the pediatrics, infantile neurology and…
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2005
2005
Extreme Microcephaly With Agyria-Pachygyria, Partial Agenesis of the Corpus Callosum, and Pontocerebellar Dysplasia
L. Sztriha
,
L. Al-Gazali
Journal of Child Neurology
2005
Corpus ID: 10582904
A 1-year-old boy with extreme microcephaly and a complex brain malformation is reported. Magnetic resonance imaging revealed an…
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Review
1998
Review
1998
Atelencephalic microcephaly: a case report and review of the literature
P. Ippel
,
E. Breslau‐Siderius
,
W. Hack
,
H. F. van der Blij
,
S. Bouve
,
J. Bijlsma
European Journal of Pediatrics
1998
Corpus ID: 10835294
Abstract Atelencephalic microcephaly is a lethal form of abnormal cerebral development. In atelencephaly there is a rudimentary…
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Highly Cited
1997
Highly Cited
1997
Susceptibility of early life stages of Xenopus laevis to cadmium
J. Herkovits
,
P. Cardellini
,
C. Pavanati
,
C. Pérez-Coll
1997
Corpus ID: 35853962
The susceptibility of Xenopus laevis to cadmium during different stages of development was evaluated by exposing embryos to…
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Review
1997
Review
1997
Lymphedema praecox seen as isolated unilateral arm involvement: case report and review of the literature.
L. Harel
,
J. Amir
,
M. Nussinovitch
,
R. Straussberg
,
I. Varsano
Jornal de Pediatria
1997
Corpus ID: 34749491
1997
1997
Flecked chorioretinopathy associated with Birt-Hogg-Dubé syndrome
P. Walter
,
B. Kirchhof
,
B. Korge
,
K. Heimann
Graefe's Archive for Clinical and Experimental…
1997
Corpus ID: 112193
Abstract• Background: BirtHogg-Dubé's syndrome is a rare skin disease characterized by multiple trichofibromas of the skin and…
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1992
1992
Autosomal recessive microcephaly with early onset seizures and spasticity
M. Silengo
,
M. Lerone
,
+4 authors
Giovanni Romeo
Clinical Genetics
1992
Corpus ID: 37007750
We describe two siblings, a male and a female pair, born of consanguineous parents, affected with a rare genetic form of…
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1987
1987
Microcephaly, microphthalmos, and retinal folds: report of a family.
I. Young
,
A. Fielder
,
K. Simpson
Journal of Medical Genetics
1987
Corpus ID: 8987248
A retarded boy with microcephaly, microphthalmos, and retinal folds is described. His mother and sister showed microphthalmos and…
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