Work

A Novel Splicesite Mutation in the EDAR Gene Causes Severe Autosomal Recessive Hypohydrotic (Anhidrotic) Ectodermal Dysplasia in an Iranian Family.

Year: 2016

Type: article

Abstract: gene in homozygous form in all affected members of a family,and in heterozygous form in carriers. Bioinformatics analysis showed that this mutation can create a new broken splicing site and lead to aberrant splicing.

Source: PubMed

Authors: Shahram Torkamandi, Milad Gholami, Javad Mohammadi-Asl, Somaye Rezaie, Mohammad Ali Zaimy, Mir Davood Omrani

Institutions: Shahid Beheshti University, Shahid Beheshti University of Medical Sciences, Ahvaz Jundishapur University of Medical Sciences, Imam Hossein Hospital, Tehran University of Medical Sciences

Language: English

Topic: dental development and anomalies

Subfield: General Dentistry

Field: Dentistry

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W2596818020

FWCI: 0.433

Cites: 6

Cited by: 3

Related to: 10