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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.
Highly Cited
2014
Highly Cited
2014
Human Resource Information Systems (HRIS) in HR Planning and Development in Mid to Large Sized Organizations
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… 
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… 
Highly Cited
1973
Highly Cited
1973
Infantile type of so-called neuronal ceroid-lipofuscinosis. 2. Morphological and biochemical studies.
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.
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… 
1948
1948
On the Relationship between Maternal Conditions during Pregnancy and Congenital Malformations
Th theory has, therefore, been advanced that mongolism is to some extent a result of of foetal environment due to this state… 
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