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

[Clinical characteristics and genetic analysis of two children with neonatal severe hyperparathyroidism].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Aug 2023

Xun Zeli, Wang Zhihua, Du Yanan, Liu Chao

Abstract excerpt

OBJECTIVE: To explore the clinical features and genetic variants in two children with neonatal severe hyperparathyroidism (NSHPT). METHODS: Two children who were diagnosed with NSHPT at the Children's Hospital Affiliated to Xi'an Jiaotong University respectively in August 2019 and April 2022 were selected as the study subjects. Clinical data were collected, and both children were subjected to whole exome...

Topics

Mutation
Child
Hyperparathyroidism, Primary
Humans
Infant, Newborn, Diseases
Homozygote

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 37532498
DOI: 10.3760/cma.j.cn511374-20220726-00492

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Clinical characteristics and genetic analysis of two children with neonatal severe hyperparathyroidism].PMID 37532498Read ↗

[Clinical and genetic analysis of a child with neonatal severe parathyroidism].Semantic proximity Read ↗

Neonatal severe hyperparathyroidism caused by homozygous mutation in CASR: A rare cause of life-threatening hypercalcemia.Semantic proximity Read ↗

Neonatal Severe Hyperparathyroidism: Novel Insights From Calcium, PTH, and the CASR Gene.Semantic proximity Read ↗

A novel CASR mutation associated with neonatal severe hyperparathyroidism transmitted as an autosomal recessive disorder.Semantic proximity Read ↗

[Clinical phenotype and molecular genetic analysis of seven children with CHARGE syndrome].Semantic proximity Read ↗

Neonatal severe hyperparathyroidism: further clinical and molecular delineation.Semantic proximity Read ↗

Genetic profile of a large Spanish cohort with hypercalcemia.Semantic proximity Read ↗

Presenting features and molecular genetics of primary hyperparathyroidism in the paediatric population.Semantic proximity Read ↗

Neonatal severe hyperparathyroidism, secondary hyperparathyroidism, and familial hypocalciuric hypercalcemia: multiple different phenotypes associated with an inactivating Alu insertion mutation of the calcium-sensing receptor gene.Semantic proximity Read ↗

Cinacalcet Monotherapy in Neonatal Severe Hyperparathyroidism: A Case Study and ReviewSemantic proximity Read ↗

Case Report: Severe Neonatal Course in Paternally Derived Familial Hypocalciuric Hypercalcemia.Semantic proximity Read ↗

[Analysis of clinical features and genetic variant in a child with Cowden syndrome 1].Semantic proximity Read ↗

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