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De Sanctis-Cacchione syndrome
Known as:
Xeroderma pigmentosum, mental deficiency, dwarfism, and gonadal hypoplasia
, xerodermic idiocy
, DeSanctis Cacchione syndrome
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A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and…
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National Institutes of Health
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Related topics
Related topics
4 relations
Broader (4)
Dwarfism
Hypogonadism
Intellectual Disability
Xeroderma Pigmentosum
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2011
2011
Surface Composition of Vesta: Issues and Integrated Approach
C. Pieters
,
L. McFadden
,
+6 authors
R. Jaumann
2011
Corpus ID: 8311577
The instruments on the Dawn spacecraft are exceptionally well suited to characterize and map the surface composition of Vesta in…
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1982
1982
The peripheral neuropathy in de Sanctis-Cacchione syndrome
N. Fukuhara
,
T. Kumamoto
,
H. Takasawa
,
T. Tsubaki
,
Y. Origuchi
Acta Neuropathologica
1982
Corpus ID: 12436131
SummaryHistological, ultrastructural, and morphometric studies were performed on nerve and muscle biopsies from three patients…
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Highly Cited
1973
Highly Cited
1973
Use of UV endonuclease from Micrococcus luteus to monitor the progress of DNA repair in UV-irradiated human cells.
M. Paterson
,
P. Lohman
,
M. Sluyter
Mutation research
1973
Corpus ID: 28852061
1973
1973
Repair replication in heterokaryons deprived from different repair-deficient xeroderma pigmentosum strains.
E. A. de Weerd-Kastelein
,
W. Kleijer
,
M. Sluyter
,
W. Keijzer
Mutation research
1973
Corpus ID: 33980384
1972
1972
Muscular abnormality in xeroderma pigmentosum. High resolution light-microscopy and electron-microscopic observations.
A. Afifi
,
V. D. Der Kaloustian
,
J. Mire
Journal of Neurological Sciences
1972
Corpus ID: 8309781
1970
1970
Morphologische und neurochemische Untersuchungen von 2 Formen der amaurotischen Idiotie des Hundes: Nachweis einerGM2-Gangliosidose
H. Bernheimer
,
E. Karbe
Acta Neuropathologica
1970
Corpus ID: 37692144
SummaryMorphological and neurochemical findings are reported in dogs with two types of amaurotic idiocy.The disease in the German…
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1965
1965
XERODERMA PIGMENTOSUM WITH NEUROLOGICAL COMPLICATIONS: THE DE SANCTIS-CACCHIONE SYNDROME.
W. B. Reed
,
Stanton B. May
,
W. R. Nickel
1965
Corpus ID: 31561060
Two brothers and a sister and brother with the de Sanctis-Cacchione syndrome (xeroderma pigmentosum, microcephaly, mental…
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1963
1963
Amaurotic Idiocy and Epilepsy
G. Edgar
,
P. Post
Epilepsia
1963
Corpus ID: 5265848
1 The infantile form of amaurotic idiocy or Tay‐Sachs disease is separated from all other forms of amaurotic idiocy on the basis…
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1962
1962
Juvenile and late forms of amaurotic idiocy in one family
W. Zeman
,
J. Hoffman
Journal of Neurology Neurosurgery & Psychiatry
1962
Corpus ID: 10281904
Amaurotic idiocy is conventionally defined as a genetically controlled sphingolipidosis which occurs in five forms of which the…
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1954
1954
A CASE OF CLINICAL JUVENILE AMAUROTIC IDIOCY WITH THE HISTOLOGICAL PICTURE OF ALZHEIMER'S DISEASE
A. C. Löken
,
K. Cyvin
Journal of Neurology Neurosurgery & Psychiatry
1954
Corpus ID: 6736359
The clinical picture of juvenile amaurotic idiocy was originally described in Norway by Stengel in 1826. He observed four…
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