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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… Expand
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.
2014
2014
Human Resource Information Systems (HRIS) in HR Planning and Development in Mid to Large Sized Organizations
Abstract The role of HRM has changed altogether from a traditional (popularly called personnel management) to a strategic one… Expand
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Highly Cited
2009
Highly Cited
2009
The Mechanics of Marine Sediment Gravity Flows
Sediment gravity flows, particularly those in the marine environment, are dynamically interesting because of the non-linear… Expand
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Highly Cited
2007
Highly Cited
2007
Dawn Mission to Vesta and Ceres
The initial exploration of any planetary object requires a careful mission design guided by our knowledge of that object as… Expand
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2004
2004
The peripheral neuropathy in de Sanctis-Cacchione syndrome
SummaryHistological, ultrastructural, and morphometric studies were performed on nerve and muscle biopsies from three patients… Expand
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Highly Cited
1973
Highly Cited
1973
Infantile type of so-called neuronal ceroid-lipofuscinosis. 2. Morphological and biochemical studies.
A clinical description is given of a uniform series of 15 patients with a progressive encephalopathy. The disease had its… Expand
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.
Abstract A sensitive enzymatic assay has been developed to follow the progress of NDA repair in human cells exposed to UV… Expand
1973
1973
Repair replication in heterokaryons deprived from different repair-deficient xeroderma pigmentosum strains.
Abstract Repair replication was studied in UV-irradiated cell populations obtained after fusion of cell strains originating from… Expand
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… Expand
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… Expand
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… Expand
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