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

Meier-Gorlin syndrome due to a recurrent DONSON variant in a Turkish family: first report of thumb aplasia and long-term growth data.

Journal of pediatric endocrinology & metabolism : JPEM - 24 Apr 2026

Sezer Abdullah, Yalçın Fatma Zehra, Kolkıran Abdulkerim, Çetinkaya Semra

Abstract excerpt

OBJECTIVES: Meier-Gorlin syndrome (MGORS) is a rare primordial dwarfism characterized by microtia, patellar hypoplasia/aplasia, and short stature. Additional features may include skeletal, respiratory, urogenital, and endocrine abnormalities. 13 genes have been implicated, with DONSON, essential for replication fork stability and intra-S phase checkpoint activation, being the most recently identified. Only six...

Read the complete abstract on PubMed

Topics

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

Share to Dwarfism
Share to Follow-Up Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Growth Disorders

Share to Micrognathism

Share to Patella

Share to Prognosis

Share to Turkey

Source

Identifiers

PMID: 41612845
DOI: 10.1515/jpem-2025-0470

Genes

DONSON

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Meier-Gorlin syndrome due to a recurrent DONSON variant in a Turkish family: first report of thumb aplasia and long-term growth data.PMID 41612845Read ↗

The expanding genetic and clinical landscape associated with Meier-Gorlin syndromeSemantic proximity Read ↗

Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome.Semantic proximity Read ↗

Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle‐opathies with Microcephaly, Dwarfism and Skeletal AbnormalitiesSemantic proximity Read ↗

Microcephalic primordial dwarfism with predominant Meier-Gorlin phenotype, ichthyosis, and multiple joint deformities-Further expansion of DONSON Cell Cycle-opathy phenotypic spectrum.Semantic proximity Read ↗

Meier-Gorlin Syndrome: Clinical Misdiagnosis as Jeune Syndrome, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal TestSemantic proximity Read ↗

Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman-Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades.Semantic proximity Read ↗

Microcephaly, short stature, and limb abnormality disorder due to novel autosomal biallelic DONSON mutations in two German siblings.Semantic proximity Read ↗

First data from a parent‐reported registry of 81 individuals with Coffin–Siris syndrome: Natural history and management recommendationsSemantic proximity Read ↗

3-M syndrome - a primordial short stature disorder with novel CUL7 mutation in two Indian patients.Semantic proximity Read ↗

Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test.Semantic proximity Read ↗

Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in FAM111A geneSemantic proximity Read ↗

Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani family.Semantic proximity Read ↗

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