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RSS FeedsHypercalcemia as a rare presentation of hyaline fibromatosis syndrome from different Sudanese families: two case reports (Journal of Medical Case Reports)

 
 

2 june 2023 23:52:38

 
Hypercalcemia as a rare presentation of hyaline fibromatosis syndrome from different Sudanese families: two case reports (Journal of Medical Case Reports)
 


Hyaline fibromatosis syndrome is a rare progressive autosomal recessive connective tissue disorder caused by a mutation in the ANTXR2/CMG2 gene. According to its severity, patients may present with skin nodules o...


 
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Clinical and whole exome sequencing findings in children from Yunnan Yi minority ethnic group with retinitis pigmentosa: two case reports (Journal of Medical Case Reports)
 
 
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