T Pho-iam

Overview

Explore the profile of T Pho-iam including associated specialties, affiliations and a list of published articles.

Snapshot

Articles 2

Citations 44

Followers 0

Related Specialty

Genetics

Top 10 Co-Authors

C Limwongse

K Chokephaibulkit

P Wasant

P Duggal

D Wattanasirichaigoon

N Vatanavicharn

O Jirapongsananuruk

C Thawil

N Visitsunthorn

C Tocharoenthanaphol

Published In

Clin Genet

J Appl Genet

Affiliations

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Recent Articles

An infant with cartilage-hair hypoplasia due to a novel homozygous mutation in the promoter region of the RMRP gene associated with chondrodysplasia and severe immunodeficiency

Vatanavicharn N, Visitsunthorn N, Pho-iam T, Jirapongsananuruk O, Pacharn P, Chokephaibulkit K, et al.

J Appl Genet . 2010 Nov; 51(4):523-8. PMID: 21063072

Cartilage-hair hypoplasia (CHH) is a rare autosomal-recessive disorder characterized by short-limbed dwarfism, sparse hair, and immune deficiency. It is caused by mutations in the RMRP gene, which encodes the RNA...

High prevalence of V37I genetic variant in the connexin-26 (GJB2) gene among non-syndromic hearing-impaired and control Thai individuals

Wattanasirichaigoon D, Limwongse C, Jariengprasert C, Yenchitsomanus P, Tocharoenthanaphol C, Thongnoppakhun W, et al.

Clin Genet . 2004 Oct; 66(5):452-60. PMID: 15479191

Hearing loss is highly prevalent with a worldwide incidence of 1-2 per 1000 newborns. Several previous studies have demonstrated that mutations of connexin 26 (Cx26 or GJB2) are responsible for...