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

Novel RAD50 variants lead to Nijmegen Breakage Syndrome-like disorder and unplanned recombinant human growth hormone treatment response.

Frontiers in endocrinology - 1 Jan 2026

Gong Yan, Jiang MingYu, Wu ShengNan, Guo Sheng, Lyu YongFen

Abstract excerpt

Background: Human RAD50 gene mutations cause Nijmegen Breakage Syndrome-like disease, characterized by severe prenatal and postpartum growth retardation and microcephaly. It is very rare (less than 5 cases) with limited clinical data and treatment experience. Methods: Clinical information was collected on a boy with microcephaly and severe growth restriction, including birth history, clinical features, unplanned...

Read the complete abstract on PubMed

Topics

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

Share to Acid Anhydride Hydrolases
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA-Binding Proteins

Share to DNA Repair Enzymes

Share to Growth Disorders

Share to Human Growth Hormone

Share to Microcephaly

Share to Recombinant Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 41798197
DOI: 10.3389/fendo.2026.1755251
PMCID: PMC12961580

Genes

RAD50

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel RAD50 variants lead to Nijmegen Breakage Syndrome-like disorder and unplanned recombinant human growth hormone treatment response.PMID 41798197Read ↗

Expanding the mutational spectrum of RAD50: a case report of Nijmegen breakage syndrome-like disorder in a Chinese child.Semantic proximity Read ↗

Human RAD50 deficiency: Confirmation of a distinctive phenotype.Semantic proximity Read ↗

An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome.Semantic proximity Read ↗

A novel homozygous intronic variant in CDT1 that alters splicing causes Meier-Gorlin syndrome, and a review of published mutations and growth hormone treatments.Semantic proximity Read ↗

Diagnosis and recombinant human growth hormone treatment of Wiedemann-Steiner syndrome: discovery of novel KMT2A variants and review of existing literature.Semantic proximity Read ↗

Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder.Semantic proximity Read ↗

De Novo Heterozygous KDM3B Variants Expand the Mutational Spectrum of Diets-Jongmans Syndrome: Case Series and Literature Review.Semantic proximity Read ↗

Applying Bioinformatic Platforms, In Vitro, and In Vivo Functional Assays in the Characterization of Genetic Variants in the GH/IGF Pathway Affecting Growth and Development.Semantic proximity Read ↗

Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group.Semantic proximity Read ↗

BRF1 mutations in a family with growth failure, markedly delayed bone age, and central nervous system anomalies.Semantic proximity Read ↗

Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing.Semantic proximity Read ↗

Design of the long-term observational cohort study with recombinant human growth hormone in Korean children: LG Growth StudySemantic proximity Read ↗

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