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

Identification of an unknown frameshift variant of NOG in a Han Chinese family with proximal symphalangism.

Bioscience reports - 26 Jun 2020

Yuan Zhuang-Zhuang, Yu Fang, Jin Jie-Yuan, Jiao Zi-Jun, Tang Ju-Yu, Xiang Rong

Abstract excerpt

Proximal symphalangism (SYM1) is an autosomal dominant disorder manifested by ankylosis of the proximal interphalangeal joints of fingers, carpal and tarsal bone fusion, and conductive hearing loss in some cases. Herein, we clinically diagnosed a Chinese patient with fusions of the bilateral proximal interphalangeal joints in the 2-5 digits without conductive hearing loss. Family history investigation revealed...

Read the complete abstract on PubMed

Topics

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

Share to Asian People
Share to Carrier Proteins
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Frameshift Mutation

Share to Heredity

Share to Heterozygote

Share to Joint Diseases

Share to Whole Genome Sequencing

Source

Open in PubMed Open full text

Identifiers

PMID: 32478388
DOI: 10.1042/BSR20200509
PMCID: PMC7295635

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

Identification of an unknown frameshift variant of NOG in a Han Chinese family with proximal symphalangism.PMID 32478388Read ↗

Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling.Semantic proximity Read ↗

Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism.Semantic proximity Read ↗

Clinical observation and genetic analysis of a SYNS1 family caused by novel NOG gene mutation.Semantic proximity Read ↗

Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome.Semantic proximity Read ↗

A novel mutation in GDF5 causes autosomal dominant symphalangism in two Chinese families.Semantic proximity Read ↗

A comprehensive review of reported heritable noggin-associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term: NOG-related-symphalangism spectrum disorder (NOG-SSD).Semantic proximity Read ↗

Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism.Semantic proximity Read ↗

Cushing proximal symphalangism and the NOG and GDF5 genes.Semantic proximity Read ↗

Multiple synostoses syndrome: Clinical report and retrospective analysis.Semantic proximity Read ↗

[Analysis of phenotype and pathogenic variants in a Chinese pedigree affected with Multiple synostoses syndrome type 1].Semantic proximity Read ↗

Further delineation of facioaudiosymphalangism syndrome: Description of a family with a novel NOG mutation and without hearing loss.Semantic proximity Read ↗

A 1.6-Mb microdeletion in chromosome 17q22 leads to NOG-related symphalangism spectrum disorder without intellectual disability.Semantic proximity Read ↗

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