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TUMORAL CALCINOSIS DUE TO GALNT3 c.516-2A > T MUTATION IN A BLACK AFRICAN FAMILY
- Article from:
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Genetic Counseling
- Article date:
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April 1, 2008
- Author:
- Laleye, A; Alao, M J; Gbessi, G; Adjagba, M; Marche, M; Coupry, I; Redonnet-Vernhet, I; Lepreux, S; Ayivi, B; Darboux, R B; Lacombe, D; Arveiler, B
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Copyright informationCopyright Ãditions Médecine et Hygiène 2008. Provided by ProQuest LLC. (Hide copyright information)
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Summary: Tumoral Calcinosis due to GALNT3 C.516-2A >T mutation in a black African family: Familial Tumoral Calcinosis (FTC) is a rare autosomal recessive disorder of the phosphocalcic metabolism caused by mutations in the FGF23 or GALNT3 genes. We have identified a Beninese family in which two brothers present FTC caused by a homozygous A>T transversion at the acceptor splice site in intron 1 of GALNT3 gene. We report on the clinical, biochemical, histopathological and molecular spectrum of the disorder in this family. The particularly severe phenotype, the amelogenesis imperfecta, and the carbapatite deposit observed in these patients, seem to be characteristic of our observations.
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Tumoral calcinosis of the foot with unusual presentation in an 11-year-old...
Journal of Postgraduate Medicine;
October 1, 2007 ;
Mohamed, S; Jong-Hun, J; Weon-Yoo, K;
787 words
...Tumoral calcinosis is an unusual benign condition...idiopathic or hereditary) but tumoral calcinosis can also be found in a wide variety...intoxication, scleroderma and uremic tumoral calcinosis. [1] Calcification essentially...
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Tumoral Calcinosis of the Hand: Three Unusual Cases With Painful Swelling...
Archives of Pathology & Laboratory Medicine;
April 1, 2006 ;
Kim, Han-Seong; Suh, Jin Su; Kim, Yong Hoon; Park, Sung-Hye;
787 words
...Tumoral calcinosis is a rare ectopic calcification...large joints. We report 3 cases of tumoral calcinosis that occurred in unusual locations...Pathol Lab Med. 2006;130:548-551) Tumoral calcinosis is an uncommon disorder characterized...
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Tumoral calcinosis
Indian Journal of Dermatology, Venereology and Leprology;
May 1, 2008 ;
Jindal, Saurabh; Surjushe, Amar; Sao, Prajct; Saple, D;
736 words
......intraepidermal calcified nodules. [1] Tumoral calcinosis is a special form of idiopathic calcinosis...follow-up to detect any recurrence. Tumoral calcinosis was first described in 1899. [3...pathogenesis: primary normophosphatemic tumoral calcinosis (NPTC), primary ...
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Localization of a bone imaging agent in a calcified hematoma
Journal of Nuclear Medicine Technology;
March 1, 1999 ;
Shih, Wei-Jen; Han, Jian-Kui; Brandenburge, Sara; Magoun, Sylvia; Mostowycz, Leonidas;
787 words
......trauma (2,3), surgery (4), hyperparathyroidism (5), spinal cord injury (6), a hematoma (7,8), myositis ossificans and tumoral calcinosis (1). Chronic renal failure complicated by hyperparathyroidism is associated frequently with calcification of soft-tissue...
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Transferrin and Apolipoprotein C-III Isofocusing Are Complementary in the...
Clinical Chemistry;
February 1, 2007 ;
Wopereis, Suzan; Grünewald, Stephanie; Huijben, Karin M L C; Morava, Éva; Et al;
787 words
......Until now, only 1 disorder with a genetic defect in the biosynthesis of mucintype O-glycans has been described: familial tumoral calcinosis (FTC) associated with mutations in the UDP-N-acetyl-a-D-galactosamine:polypeptide-N-acetylgalactosaminyltransferase 3...
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Pathologic quiz case: Crystal deposition disease of the knee joint
Archives of Pathology & Laboratory Medicine;
May 1, 2001 ;
Chivukula, Mamatha; Shidham, Ganesh; Shidham, Vinod;
787 words
......lesions may resemble gout and other conditions, such as tumoral calcinosis.5-7 Pseudogout crystals demonstrate diagnostic weak positive...crystals with reference to the axis of slow ray.1,8,9 In tumoral calcinosis, the calcium hydroxyapatite crystals show amorphous basophilic...
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Extraskeletal Uptake of Technetium-99m-MDP in Sites of Heparin...
The Journal of Nuclear Medicine;
May 1, 1998 ;
Challa, Sudha; Miller, John H;
787 words
......tracers. Technetium-99m-labeled tracers have been found to accumulate in benign conditions such as myositis ossificans and tumoral calcinosis and in malignant tumors such as sarcomas, adenocarcinomas and metastases (1-3). Sites of intramuscular injections of drugs...
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Technetium-99m-MDP uptake in hilar lymph nodes in sarcoidosis
The Journal of Nuclear Medicine;
February 1, 1997 ;
Gregory A Quin; Carmen E Gonzalez; Paul Lizotte; Ronald S Adler; Barry L Shulkin;
787 words
......localization of bone-seeking agents has been found in muscular sarcoidosis, nephrocalcinosis secondary to sarcoidosis, tumoral calcinosis associated with sarcoidosis and myocardial sarcoidosis (8-12). One case has been reported in which ^sup 99m^Tc-Sn PYP...
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