Clinical and Genetic Study of Pseudohypoparathyroidism Type 1b in Hong Kong Chinese
Bibliographic record
Abstract
Pseudohypoparathyroidism type 1b (PHP-1b) is a rare congenital imprinting disease characterized by parathyroid hormone resistance, normal neurodevelopment and no feature of Albright hereditary osteodystrophy. It is caused by genetic and epigenetic defect of GNAS locus located at chromosome 20q13.32 region. We here have reported a case series of three cases of PHP-1b in Hong Kong Chinese. Two were sporadic and one was autosomal dominant (AD) subtype. All of them were identified by methylation specific-multiplex ligation dependent probe amplification method. The AD PHP-1b case had typical 3-kb STX16 gene deletion. There was no paternal uniparental disomy chromosome 20 for those sporadic cases. Although PHP-1b had been well studied in western population, it is rarely reported in Chinese. This study is the first comprehensive study of PHP-1b for Hong Kong Chinese in the literature. With more awareness and better understanding of PHP-1b, it will result in judicious use of genetic testing and better medical management of this orphan disease. J Endocrinol Metab. 2016;6(2):64-70 doi: http://dx.doi.org/10.14740/jem337w
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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".