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Literature DB >> 10798120

McCune Albright syndrome and hypophosphatemic rickets.

Abstract

A 4 year-old girl had coxa vara, tibial bowing and hyperpigmented macules. The x-ray showed polyostotic fibrous dysplasia and evidence of rickets. Biochemical investigations confirmed hyperphosphaturic hypophosphatemic rickets. The literature has been reviewed.

Entities: Disease Species

Mesh：

Year: 1999 PMID： 10798120 DOI： 10.1007/bf02727183

Source DB: PubMed Journal: Indian J Pediatr ISSN： 0019-5456 Impact factor: 1.967

15 in total

1. Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome.

Authors: W F Schwindinger; C A Francomano; M A Levine
Journal: Proc Natl Acad Sci U S A Date: 1992-06-01 Impact factor: 11.205

2. Hypophosphataemic osteomalacia in fibrous dysplasia.

Authors: C E Dent; J M Gertner
Journal: Q J Med Date: 1976-07

3. Albright's syndrome associated with a soft-tissue myxoma and hypophosphataemic osteomalacia. Report of a case and review of the literature.

Authors: E G Lever; K W Pettingale
Journal: J Bone Joint Surg Br Date: 1983-11

4. Crosstransplantation of kidneys in normal and Hyp mice. Evidence that the Hyp mouse phenotype is unrelated to an intrinsic renal defect.

Authors: T Nesbitt; T M Coffman; R Griffiths; M K Drezner
Journal: J Clin Invest Date: 1992-05 Impact factor: 14.808

5. Activating mutations of the stimulatory G protein in the McCune-Albright syndrome.

Authors: L S Weinstein; A Shenker; P V Gejman; M J Merino; E Friedman; A M Spiegel
Journal: N Engl J Med Date: 1991-12-12 Impact factor: 91.245

6. Severe endocrine and nonendocrine manifestations of the McCune-Albright syndrome associated with activating mutations of stimulatory G protein GS.

Authors: A Shenker; L S Weinstein; A Moran; O H Pescovitz; N J Charest; C M Boney; J J Van Wyk; M J Merino; P P Feuillan; A M Spiegel
Journal: J Pediatr Date: 1993-10 Impact factor: 4.406

7. Urinary cyclic adenosine 3',5'-monophosphate response in McCune-Albright syndrome: clinical evidence for altered renal adenylate cyclase activity.

Authors: A Zung; S A Chalew; W F Schwindinger; M A Levine; M Phillip; A Jara; D R Counts; A A Kowarski
Journal: J Clin Endocrinol Metab Date: 1995-12 Impact factor: 5.958

McCune Albright syndrome and hypophosphatemic rickets.

1. Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome.

2. Hypophosphataemic osteomalacia in fibrous dysplasia.

3. Albright's syndrome associated with a soft-tissue myxoma and hypophosphataemic osteomalacia. Report of a case and review of the literature.

4. Crosstransplantation of kidneys in normal and Hyp mice. Evidence that the Hyp mouse phenotype is unrelated to an intrinsic renal defect.

5. Activating mutations of the stimulatory G protein in the McCune-Albright syndrome.

6. Severe endocrine and nonendocrine manifestations of the McCune-Albright syndrome associated with activating mutations of stimulatory G protein GS.

7. Urinary cyclic adenosine 3',5'-monophosphate response in McCune-Albright syndrome: clinical evidence for altered renal adenylate cyclase activity.

8. Inhibitors of renal epithelial phosphate transport in tumor-induced osteomalacia and uremia.

9. The McCune-Albright syndrome: a lethal gene surviving by mosaicism.

Review 10. Oncogenic osteomalacia: a clinicopathologic study of 17 bone lesions.

Review 1. Tumor-Induced Osteomalacia: A Systematic Clinical Review of 895 Cases.