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De Sanctis-Cacchione syndrome

Known as: Xeroderma pigmentosum, mental deficiency, dwarfism, and gonadal hypoplasia, xerodermic idiocy, DeSanctis Cacchione syndrome 
A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and… 
National Institutes of Health

Related topics

Related topics

4 relations

Broader (4)

DwarfismHypogonadismIntellectual DisabilityXeroderma Pigmentosum

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2011
2011
Surface Composition of Vesta: Issues and Integrated Approach
The instruments on the Dawn spacecraft are exceptionally well suited to characterize and map the surface composition of Vesta in… 
1982
1982
The peripheral neuropathy in de Sanctis-Cacchione syndrome
SummaryHistological, ultrastructural, and morphometric studies were performed on nerve and muscle biopsies from three patients… 
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.
1973
1973
Repair replication in heterokaryons deprived from different repair-deficient xeroderma pigmentosum strains.
1972
1972
Muscular abnormality in xeroderma pigmentosum. High resolution light-microscopy and electron-microscopic observations.
1970
1970
Morphologische und neurochemische Untersuchungen von 2 Formen der amaurotischen Idiotie des Hundes: Nachweis einerGM2-Gangliosidose
SummaryMorphological and neurochemical findings are reported in dogs with two types of amaurotic idiocy.The disease in the German… 
1965
1965
XERODERMA PIGMENTOSUM WITH NEUROLOGICAL COMPLICATIONS: THE DE SANCTIS-CACCHIONE SYNDROME.
Two brothers and a sister and brother with the de Sanctis-Cacchione syndrome (xeroderma pigmentosum, microcephaly, mental… 
1963
1963
Amaurotic Idiocy and Epilepsy
1 The infantile form of amaurotic idiocy or Tay‐Sachs disease is separated from all other forms of amaurotic idiocy on the basis… 
1962
1962
Juvenile and late forms of amaurotic idiocy in one family
Amaurotic idiocy is conventionally defined as a genetically controlled sphingolipidosis which occurs in five forms of which the… 
1954
1954
A CASE OF CLINICAL JUVENILE AMAUROTIC IDIOCY WITH THE HISTOLOGICAL PICTURE OF ALZHEIMER'S DISEASE
The clinical picture of juvenile amaurotic idiocy was originally described in Norway by Stengel in 1826. He observed four… 
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