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Record W2044689575 · doi:10.1002/ajmg.a.32088

Pseudoarthrosis of the clavicle and copper beaten skull associated with chromosome 10p11.21p12.1 microdeletion

2007· article· en· W2044689575 on OpenAlexfundno aff
Raveen Shahdadpuri, Bert de Vries, Rolph Pfundt, Nicole de Leeuw, William Reardon

Bibliographic record

VenueAmerican Journal of Medical Genetics Part A · 2007
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicCongenital limb and hand anomalies
Canadian institutionsnot available
FundersHospital for Sick Children
KeywordsClavicleSkullContext (archaeology)AnatomyChromosomeMedicineBiologyGeneticsGenePaleontology

Abstract

fetched live from OpenAlex

Congenital pseudoarthrosis of the clavicle (CPC) has been described in several genetic conditions including Floating-Harbor and Goltz syndromes, but rarely as a prompt to specific cytogenetic abnormalities. We report on a case of a de novo 10p11.21p12.1 microdeletion in a boy with multiple problems including a beaten copper appearance of the cranium on skull X-ray and pseudoarthrosis of the right clavicle. This is the first description of these particular skeletal findings in the context of a chromosome 10p deletion.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not 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.

metaresearch head score (Codex)0.001
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.183
Threshold uncertainty score0.267

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.001
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

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.

Opus teacher head0.006
GPT teacher head0.237
Teacher spread0.231 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designBench or experimental
Domainnot available
GenreEmpirical

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".

Quick stats

Citations29
Published2007
Admission routes1
Has abstractyes

Explore more

Same venueAmerican Journal of Medical Genetics Part ASame topicCongenital limb and hand anomaliesFrench-language works237,207