| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 5891241 | Bone | 2013 | 5 Pages |
Abstract
⺠A Gambian family of 5 children where 3 siblings had florid rickets with suspected HHRH ⺠Biochemical profile of hypophosphataemia with elevated urinary phosphate and calcium excretion. ⺠Genetic analysis of the SLC34A3 gene indicated a novel mutation of S168F. ⺠The siblings with rickets were homozygous in S168F, the unaffected siblings were carriers. ⺠We report the first cases of hereditary hypophosphataemic rickets with hypercalciuria in Africa.
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Authors
Vickie Braithwaite, John M. Pettifor, Ann Prentice,