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

Feingold syndrome type 2 in a patient from China.

American journal of medical genetics. Part A - 1 Jul 2021

Lei Jie, Han Luhao, Huang Yanke, Long Min, Zhao Gang, Yan Shida, Zhang Jing

Abstract excerpt

Feingold syndrome type 2 (FGLDS2, MIM614326) is a genetic congenital malformation syndrome, caused by germline heterozygous deletion of MIR17HG on chromosome 13q31, which is extremely rare worldwide. To date, less than 25 patients have been described in the literature. Here, we report on a 3-year-old girl presented with hip dysplasia, polysyndactyly of the left thumb, brachymesophalangy of the fifth digit,...

Read the complete abstract on PubMed

Topics

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

Share to Cartilage Oligomeric Matrix Protein
Share to Chromosomes, Human, Pair 13

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eyelids

Share to Glypicans

Share to Limb Deformities, Congenital

Share to Microcephaly

Share to RNA, Long Noncoding

Share to Sulfate Transporters

Source

Identifiers

PMID: 33818875
DOI: 10.1002/ajmg.a.62190

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Feingold syndrome type 2 in a patient from China.PMID 33818875Read ↗

Novel Compound Heterozygous Variants in the COG5 Gene Causing Fetal Hydrops and Skeletal Dysplasia.Semantic proximity Read ↗

Clinical and genomic evaluation of a Chinese patient with a novel deletion associated with Phelan-McDermid syndrome.Semantic proximity Read ↗

Whole Exome Sequencing Aids The Diagnosis of Fetal Skeletal DysplasiaSemantic proximity Read ↗

[Analysis of a child with DIGFAN syndrome due to variant of MORC2 gene].Semantic proximity Read ↗

ZNF142 mutation causes neurodevelopmental disorder with speech impairment and seizures: Novel variants and literature review.Semantic proximity Read ↗

Identification of a novel mutation in the FGFR3 gene in a Chinese family with Hypochondroplasia.Semantic proximity Read ↗

Prenatal diagnosis identifies compound heterozygous variants in PKDCC that causes Rhizomelic Limb Shortening with Dysmorphic Features in a Chinese fetusSemantic proximity Read ↗

Exome Sequencing Reveals Novel Variants in Genetic Skeletal Disorders: Insights From a Cohort in Southwest Iran.Semantic proximity Read ↗

Genetic Analysis in Fetal Skeletal Dysplasias by Trio Whole-Exome SequencingSemantic proximity Read ↗

Targeted exome sequencing identifies novel compound heterozygous mutations in P3H1 in a fetus with osteogenesis imperfecta type VIII.Semantic proximity Read ↗

FBLN2 is associated with Goldenhar syndrome and is essential for cranial neural crest cell developmentSemantic proximity Read ↗

De novo mutation in COL2A1 leads to lethal foetal skeletal dysplasia.Semantic proximity Read ↗

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