Hypohidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis (sparseness of
scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital …

To keep pace with the rapid advancements in molecular genetics and rare diseases
research, we have updated the list of ectodermal dysplasias based on the latest …

Lymphatic enhancer factor 1 (Lef1) and distal-less homeobox 3 (Dlx3) are the transcription
factors involved in regulating hair follicle development in mice, goats, and other animals …

Non-syndromic tooth agenesis (ns-TA) is one of the most common dental anomalies
characterized by the congenital absence of at least one permanent tooth (excluding third …

The aim of this systematic review was to describe the clinical and genetic features of
syndromes showing oligodontia as a sign. The review was performed according to the …

To evaluate the correlation between chromosomal abnormalities and fetal aberrant right
subclavian artery (ARSA) with or without additional ultrasound anomalies (UAs). A total of …

Purpose LEF1 encodes a transcription factor acting downstream of the WNT-β-catenin
signaling pathway. It was recently suspected as a candidate for ectodermal dysplasia in 2 …

Oligodontia can be isolated or syndromic, associated with other ectodermal abnormalities.
The aim of the study was to perform hair examination in orthodontic patients diagnosed with …

Background Elasmoid scales are one of the most common dermal appendages and can be
found in almost all species of bony fish differing greatly in their shape. Whilst the genetic …

Background Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder that results in
the abnormal development of structures derived from ectodermal tissue. This rare condition …