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

p.R672C mutation of MYH3 gene in an Egyptian infant presented with Freeman-Sheldon syndrome.

Indian journal of pediatrics - 1 Jan 2011

Al-Haggar Mohammad, Yahia Soheir, Damjanovich Kristy, Ahmad Nermin, Hamada Iman, Bayrak-Toydemir Pinar

Abstract excerpt

OBJECTIVE: To define the mutation type in a clinically suspected Egyptian child with Freeman-Sheldon syndrome (FSS); it involves certain skeletal malformations with some facial characteristics; skeletal malformations include camptodactyly with ulnar deviation, talipes equinovarus, while the facial characteristics include deep-sunken eyes with hypertelorism, long philtrum, small pinched nose and pursed mouth....

Read the complete abstract on PubMed

Topics

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

Share to Craniofacial Dysostosis
Share to Cytoskeletal Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Mutation

Share to Phenotype

Source

Identifiers

PMID: 20924721
DOI: 10.1007/s12098-010-0230-y

Genes

MYH3

Variants

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

p.R672C mutation of MYH3 gene in an Egyptian infant presented with Freeman-Sheldon syndrome.PMID 20924721Read ↗

Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman-Sheldon Syndrome caused by a pathogenic MYH3 mutation.Semantic proximity Read ↗

Identification of two novel MYH3 variants causing different phenotypes in prenatal diagnosis.Semantic proximity Read ↗

A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.Semantic proximity Read ↗

Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome.Semantic proximity Read ↗

A MYH3 mutation identified for the first time in a Chinese family with Sheldon-Hall syndrome (DA2B).Semantic proximity Read ↗

First Korean family with a mutation in TPM2 associated with Sheldon-Hall syndrome.Semantic proximity Read ↗

Sheldon-Hall syndrome.Semantic proximity Read ↗

Genotype-phenotype relationships in Freeman-Sheldon syndrome.Semantic proximity Read ↗

Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutations.Semantic proximity Read ↗

Laryngomalacia, choanal atresia and renal anomaly in a newborn with Freeman-Sheldon syndrome phenotype.Semantic proximity Read ↗

A novel TNNI2 mutation causes Freeman-Sheldon syndrome in a Chinese family with an affected adult with only facial contractures.Semantic proximity Read ↗

A novel mutation in TNNT3 associated with Sheldon-Hall syndrome in a Chinese family with vertical talus.Semantic proximity Read ↗

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