Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Rathbun syndrome (hypophosphatasia) due to the heterozygous variant c.297+5G>A in alkaline phosphatase with unusual phenotype.

Chinese medical journal - 16 Dec 2021

Finsterer Josef, Stöllberger Claudia

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alkaline Phosphatase
Share to Heterozygote
Share to Hypophosphatasia
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 34924504
DOI: 10.1097/CM9.0000000000001777
PMCID: PMC8812593

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Rathbun syndrome (hypophosphatasia) due to the heterozygous variant c.297+5G>A in alkaline phosphatase with unusual phenotype.PMID 34924504Read ↗

Hypophosphatasia: molecular diagnosis of Rathbun's original case.Semantic proximity Read ↗

Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population.Semantic proximity Read ↗

Hypophosphatasia now draws more attention of both clinicians and researchers: a commentary on Prevalence of c. 1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasias in Japanese and effects of the mutation on heterozygous carriers.Semantic proximity Read ↗

Genetics of hypophosphatasia.Semantic proximity Read ↗

Systemic Effects of Hypophosphatasia. Characterization of Two Novel Variants in the Alpl GeneSemantic proximity Read ↗

Clinical and genetic aspects of hypophosphatasia in Japanese patients.Semantic proximity Read ↗

Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adultsSemantic proximity Read ↗

Hypophosphatasia: is it an underdiagnosed disease even by expert physicians?Semantic proximity Read ↗

Screening for Hypophosphatasia in Adult Patients at a Maximum Care Provider – Retrospective Analyses over Fifteen YearsSemantic proximity Read ↗

Systemic effects of hypophosphatasia characterization of two novel variants in the ALPL gene.Semantic proximity Read ↗

Clinical, biochemical, and genetic analysis of korean patients with pseudohypoparathyroidism type Ia.Semantic proximity Read ↗

Potential pathological role of single nucleotide polymorphism (c.787T>C) in alkaline phosphatase (ALPL) for the phenotypes of hypophosphatasia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.