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

Haploinsufficiency of BMP4 gene may be the underlying cause of Frías syndrome.

American journal of medical genetics. Part A - 1 Feb 2014

Martínez-Fernández María Luisa, Bermejo-Sánchez Eva, Fernández Belén, MacDonald Alexandra, Fernández-Toral Joaquín, Martínez-Frías María Luisa

Abstract excerpt

In 2005, we reported on a family as having Frías syndrome (OMIM: 609640), with four affected members displaying a pattern of congenital defects nearly identical to those observed in a mother and son described by Frias [Frías et al. (1975). Birth Defects Orig Artic Ser 11:30-33]. These defects included growth deficiency, facial anomalies, and hand and foot alterations. We had the opportunity to study this family...

Read the complete abstract on PubMed

Topics

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

Share to Bone Morphogenetic Protein 4
Share to Chromosome Banding

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 14

Share to Facies

Share to Foot Deformities, Congenital

Share to Growth Disorders

Share to Haploinsufficiency

Source

Identifiers

PMID: 24311462
DOI: 10.1002/ajmg.a.36224

Genes

BMP4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Haploinsufficiency of BMP4 gene may be the underlying cause of Frías syndrome.PMID 24311462Read ↗

Molecular pathology of the fibroblast growth factor family.Semantic proximity Read ↗

8.6Mb interstitial deletion of chromosome 4q13.3q21.23 in a boy with cognitive impairment, short stature, hearing loss, skeletal abnormalities and facial dysmorphism.Semantic proximity Read ↗

Genotypic and Phenotypic Characterization of Seven Individuals With Predicted Bone Morphogenetic Protein 2 (BMP2) Haploinsufficiency.Semantic proximity Read ↗

FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease.Semantic proximity Read ↗

Dysregulation of the BMP‐4 Signaling Pathway in Fibrodysplasia Ossificans ProgressivaSemantic proximity Read ↗

Roles of FGF receptors in mammalian development and congenital diseases.Semantic proximity Read ↗

Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies.Semantic proximity Read ↗

Craniosynostosis, psychomotor retardation, and facial dysmorphic features in a Spanish patient with a 4q27q28.3 deletion.Semantic proximity Read ↗

Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate.Semantic proximity Read ↗

A Novel Heterozygous c.1024A>G Variant in BMPR1B Causes Either Isolated Brachydactyly Type A4 With Variable Expressivity or Incomplete Type A4 Overlapping Type D in a Chinese Han Pedigree.Semantic proximity Read ↗

Variability in expression of a familial 2.79 Mb microdeletion in chromosome 14q22.1-22.2.Semantic proximity Read ↗

Development of the lip and palate: FGF signalling.Semantic proximity Read ↗

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