Pseudopseudohypoparathyroidism With a Novel Mutation in the GNAS Gene Showing Thin Bones of Extremities and Ossification of Entheses
Bibliographic record
Abstract
Pseudopseudohypoparathyroidism (PPHP) is an extremely rare disorder caused by mutations in the GNAS gene. PPHP as well as pseudohypoparathyroidism (PHP) shows Albright hereditary osteodystrophy (AHO) such as mental retardation, round face, short stature, central obesity, short fingers and toes. Here we report a patient with PPHP and type 2 diabetes who had a novel mutation in the GNAS gene and showed atypical heterotopic ossification, ossification of entheses, and also thin bones of extremities, in addition to characteristic clinical features for AHO. J Endocrinol Metab. 2013;3(6):150-152 doi: http://dx.doi.org/10.4021/jem198w
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".