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10.1002/ajmg.a.33832 http://scihub22266oqcxt.onion/10.1002/ajmg.a.33832 C4777326!4777326 !21344632     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=21344632 &cmd=llinks): Failed to open stream: HTTP request failed! 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Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis-identification of a novel SLC34A3/NaPi-IIc mutation |pdf=|usr=}}{{21344632 }} gab.com Text Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis-identification of a novel SLC34A3/NaPi-IIc mutation JO: Am J Med Genet A http://www.kidney.de/pget.php?&tw=1&pmid=21344632 #FOAvip Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is characterized by rickets, hyperphosphaturia, hypophosphatemia, elevated 1,25-dihydroxyvitamin-D, increased gastrointestinal calcium absorption and hypercalciuria. Serum calcium, 25-hydroxyvitamin-D and PTH levels are normal. Here we describe a boy with HHRH, nephrolithiasis, and compound heterozygosity for one previously described mutation (g.4225_50del) and a novel splice mutation (g.1226G>A) in SLC34A3, the gene encoding the renal sodium-phosphate co-transporter NaPi-IIc. The patient's mother and grandmother are carriers of g.4225_50del, and both have a history of nephrolithiasis associated with hypercalciuria and elevated 1,25-dihydroxyvitamin-D. His three siblings (2-6 years old), who are also carriers of g.4225_50del, have hypercalciuria but so far their renal ultrasounds are normal. Thus, SLC34A3/NaPi-IIc mutations appear to be associated with variable phenotypic changes at presentation, which can include recurrent nephrolithiasis. Twit Text FOAVip Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis-identification of a novel SLC34A3/NaPi-IIc mutation ????Am J Med Genet A http://www.kidney.de/pget.php?&tw=1&pmid=21344632 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=21344632 #FOAvip English Wikipedia <ref>{{Cite pmid|21344632 }}</ref> Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis-identification of a novel SLC34A3/NaPi-IIc mutation #MMPMID21344632 Phulwani P ; Bergwitz C ; Jaureguiberry G ; Rasoulpour M ; Estrada E Am J Med Genet A 2011[Mar]; 155A (3 ): 626-33 PMID21344632 show ga Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is characterized by rickets, hyperphosphaturia, hypophosphatemia, elevated 1,25-dihydroxyvitamin-D, increased gastrointestinal calcium absorption and hypercalciuria. Serum calcium, 25-hydroxyvitamin-D and PTH levels are normal. Here we describe a boy with HHRH, nephrolithiasis, and compound heterozygosity for one previously described mutation (g.4225_50del) and a novel splice mutation (g.1226G>A) in SLC34A3, the gene encoding the renal sodium-phosphate co-transporter NaPi-IIc. The patient's mother and grandmother are carriers of g.4225_50del, and both have a history of nephrolithiasis associated with hypercalciuria and elevated 1,25-dihydroxyvitamin-D. His three siblings (2-6 years old), who are also carriers of g.4225_50del, have hypercalciuria but so far their renal ultrasounds are normal. Thus, SLC34A3/NaPi-IIc mutations appear to be associated with variable phenotypic changes at presentation, which can include recurrent nephrolithiasis. |Base Sequence [MESH] |Child, Preschool [MESH] |Familial Hypophosphatemic Rickets/*complications/*genetics [MESH] |Female [MESH] |Humans [MESH] |Hypercalciuria/*complications/*genetics [MESH] |Infant [MESH] |Infant, Newborn [MESH] |Male [MESH] |Molecular Sequence Data [MESH] |Mutation/*genetics [MESH] |Nephrolithiasis/*complications/genetics [MESH] |Pedigree [MESH] |Polymorphism, Single Nucleotide/genetics [MESH] |Pregnancy [MESH] |RNA, Messenger/genetics/metabolism [MESH] |Restriction Mapping [MESH] |Reverse Transcriptase Polymerase Chain Reaction [MESH]Hereditary hypophosphatemic rickets with hypercalciuria and nephroli(epmc).pdf DeepDyve Pubget Overpricing