Evidence map›Paper›PMID 40746945›Full record

ArticleBone reports2025

Multigenerational genetic inheritance and clinical characteristics of the rare disease hypophosphatasia in 6 families: A case series.

Peter Kannu, Aliya A Khan, Mira Francis, Jonathan D Adachi

Erratum issuedAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Bone reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

4 authors.

Peter KannuUniversity of Alberta, 8613 114 Street, Edmonton, AB T6G 1C9, Canada.
Aliya A KhanMcMaster University, 1280 Main St W, Hamilton, ON L8S 4L8, Canada.
Mira FrancisAlexion, AstraZeneca Rare Disease, 1004 Middlegate Road, Mississauga, ON L4Y 1M4, Canada.
Jonathan D AdachiMcMaster University, 1280 Main St W, Hamilton, ON L8S 4L8, Canada.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Family mapping is a useful tool for tracking the inheritance of rare inherited diseases, including hypophosphatasia (HPP), through generations. We show the inheritance of HPP in 6 affected families, describing genetic variants, biochemical hallmarks, and clinical manifestations among family members. Mapping families with HPP is warranted in clinical practice to better understand monitoring needs for potentially affected individuals over time, since manifestations of HPP can arise throughout a patient's lifespan.

Indexed as

Alkaline phosphataseFamily mappingHypophosphatasia genotypePhenotype

Identifiers

PMID40746945
PMCPMC12311441

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.