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

Shortened fetal long bones: A notable intrauterine phenotypic feature in SHOX-associated skeletal dysplasia.

Prenatal diagnosis - 1 Sept 2023

Hu Rong, Huang Weiwei, Ren Congmian, Liu Ling, Hou Yaping, Wang Yunan, Lu Jian

Abstract excerpt

OBJECTIVE: To explore the intrauterine phenotypic spectrum of short stature homeobox-containing (SHOX) gene-associated skeletal dysplasia and provide genetic counseling at-risk pregnancies. METHOD: We analyzed the fetuses with SHOX-microdeletions identified by single nucleotide polymorphism (SNP)-array. The intrauterine phenotypes and outcomes were further elaborated. RESULTS: Nine fetuses carrying a single...

Read the complete abstract on PubMed

Topics

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

Share to Fetal Growth Retardation
Share to Fetus
Share to Growth Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homeodomain Proteins

Share to Infant, Newborn

Share to Phenotype

Share to Pregnancy

Share to Short Stature Homeobox Protein

Source

Identifiers

PMID: 37526276
DOI: 10.1002/pd.6417

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

Shortened fetal long bones: A notable intrauterine phenotypic feature in SHOX-associated skeletal dysplasia.PMID 37526276Read ↗

SHOX haploinsufficiency presenting with isolated short long bones in the second and third trimester.Semantic proximity Read ↗

Detection of SHOX Gene Variations in Patients with Skeletal Abnormalities with or without Short StatureSemantic proximity Read ↗

SHOX deficiency in short Taiwanese children: A single-center experience.Semantic proximity Read ↗

Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency.Semantic proximity Read ↗

Clinical and genetic spectrum of SHOX deficiency: phenotypic heterogeneity and the "Jumping SHOX" phenomenon.Semantic proximity Read ↗

Short stature due to SHOX deficiency: genotype, phenotype, and therapy.Semantic proximity Read ↗

Short stature and dysmorphology associated with defects in the SHOX gene.Semantic proximity Read ↗

Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin.Semantic proximity Read ↗

Novel heterozygous mutation in the SHOX gene leading to familial idiopathic short stature: A case report and literature review.Semantic proximity Read ↗

The role of the SHOX gene in the pathophysiology of Turner syndrome.Semantic proximity Read ↗

Copy number variants in short children born small for gestational age.Semantic proximity Read ↗

Genetic analysis, ultrasound phenotype, and pregnancy outcomes of fetuses with Xp22.33 or Yp11.32 microdeletions.Semantic proximity Read ↗

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