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

Further delineation of the phenotype caused by loss of function mutations in PRMT7.

European journal of medical genetics - 1 Mar 2019

Valenzuela Irene, Segura-Puimedon Maria, Rodríguez-Santiago Benjamín, Fernández-Alvarez Paula, Vendrell Teresa, Armengol Lluís, Tizzano Eduardo

Abstract excerpt

PRMT7 encodes for an arginine methyltransferase that methylates arginine residues on various protein substrates and has been shown to play a role in various developmental processes. Mutations in PRMT7 have been recently shown to be implicated in a phenotype with intellectual disability, short stature and brachydactyly, and considered to be a phenocopy of pseudohypoparathyroidism. We report a patient with short...

Read the complete abstract on PubMed

Topics

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

Share to Brachydactyly
Share to Dwarfism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Intellectual Disability

Share to Loss of Function Mutation

Share to Phenotype

Share to Protein-Arginine N-Methyltransferases

Share to Syndrome

Source

Identifiers

PMID: 30006058
DOI: 10.1016/j.ejmg.2018.07.007

Genes

PRMT7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Further delineation of the phenotype caused by loss of function mutations in PRMT7.PMID 30006058Read ↗

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.Semantic proximity Read ↗

Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review.Semantic proximity Read ↗

Novel PRMT7 mutation in a rare case of dysmorphism and intellectual disability.Semantic proximity Read ↗

Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.Semantic proximity Read ↗

Short stature in PRMT7 Mutations: first evidence of response to growth hormone treatment.Semantic proximity Read ↗

Case Report: A novel PTHLH nonsense variant in a mother-son pair with brachydactyly type E and short stature, with a genotype-stature review.Semantic proximity Read ↗

A study on genotypes and phenotypes of short stature caused by epigenetic modification gene variants.Semantic proximity Read ↗

A Splice-Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder.Semantic proximity Read ↗

Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b.Semantic proximity Read ↗

A homozygous frame-shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features.Semantic proximity Read ↗

Dual rare genetic variants: case report of a child with SBIDDS syndrome and citrullinemia type 1.Semantic proximity Read ↗

Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A.Semantic proximity Read ↗

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