Article

Electronic Medical Record and Clinical Evaluation of Two Patient Cohorts at Risk of Hypophosphatasia: Family History is an Underutilized Tool to Diagnose Patients with Rare Disease

2021-02-26

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>Family history (FH) is a powerful tool in screening and testing for chronic disease, oncologic conditions, and other genetic diagnoses, and is dependent upon observing patterns of features inherited across generations. Despite acceptance of FH as a fundamental part of a genetic medicine evaluation, there are limited data in other medical fields about its utility...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 240cb02a-dbc8-55cb-9717-12881e9d4a1b
DOI: 10.21203/rs.3.rs-243884/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Electronic Medical Record and Clinical Evaluation of Two Patient Cohorts at Risk of Hypophosphatasia: Family History is an Underutilized Tool to Diagnose Patients with Rare DiseaseDOI 10.21203/rs.3.rs-243884/v1Read

Clinical genomic database.Semantic proximity Read

The Global Hypophosphatasia Registry: lessons learned from a decade of real-world dataSemantic proximity Read

Family genetics.Semantic proximity Read

Streamlining Inherited Cancer Identification via an EMR-Integrated Risk Assessment Platform: A Nonrandomized Clinical Trial.Semantic proximity Read

FAP: recognizing the importance of family history and genetic testing.Semantic proximity Read

Not just a carrier: Clinical presentation and management of patients with heterozygous disease-causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening.Semantic proximity Read

A systematic analysis of the contribution of genetics to multimorbidity and comparisons with primary care dataSemantic proximity Read

Clinical and Outcome Comparison of Genetically Positive Vs. Negative Patients in a Large Cohort of Suspected Familial Hypocalciuric HypercalcemiaSemantic proximity Read

The International X-Linked Hypophosphataemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical dataSemantic proximity Read

Validation of a Digital Identification Tool for Individuals at Risk for Hereditary Cancer SyndromesSemantic proximity Read

Genomics in primary care practice.Semantic proximity Read

Genetic characterization of a large cohort of individuals with a clinical suspicion of hypophosphatasia in the United StatesSemantic proximity Read