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

An additional case of Néstor-Guillermo progeria syndrome diagnosed in early childhood.

American journal of medical genetics. Part A - 1 Oct 2020

Fisher Heather G, Patni Nivedita, Scheuerle Angela E

Abstract excerpt

Néstor-Guillermo progeria syndrome (NGPS; OMIM 614008) is characterized by early onset and slow progression of symptoms including poor growth, lipoatrophy, pseudosenile facial appearance, and normal cognitive development. In contrast to other progeria syndromes, NGPS is associated with a longer lifespan and higher risk for developing severe skeletal abnormalities. It is an autosomal recessive condition caused by...

Read the complete abstract on PubMed

Topics

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

Share to Aging, Premature
Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA-Binding Proteins

Share to Exome Sequencing

Share to Infant

Share to Phenotype

Share to Progeria

Source

Identifiers

PMID: 32783369
DOI: 10.1002/ajmg.a.61777

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

An additional case of Néstor-Guillermo progeria syndrome diagnosed in early childhood.PMID 32783369Read ↗

Néstor-Guillermo progeria syndrome: a novel premature aging condition with early onset and chronic development caused by BANF1 mutations.Semantic proximity Read ↗

Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A.Semantic proximity Read ↗

Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome.Semantic proximity Read ↗

Premature aging disorders: A clinical and genetic compendium.Semantic proximity Read ↗

Jaberi-Elahi syndrome: Exploring a novel GTPBP2 mutation and a literature review.Semantic proximity Read ↗

Wiedemann-Rautenstrauch syndrome in an Indian patient with biallelic pathogenic variants in POLR3A.Semantic proximity Read ↗

A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome.Semantic proximity Read ↗

Prenatal diagnosis of SLC25A24 Fontaine progeroid syndrome: description of the fetal phenotype, genotype and detection of parental mosaicism.Semantic proximity Read ↗

Variants in FREM1 and trisomy 18 identified in a neonatal progeria patient.Semantic proximity Read ↗

Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome.Semantic proximity Read ↗

The third case of Marbach-Rustad progeroid syndrome caused by a de novo LEMD2 variant.Semantic proximity Read ↗

Whole-exome sequencing reveals POLR3B variants associated with progeria-related Wiedemann-Rautenstrauch syndrome.Semantic proximity Read ↗

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