Ectrodactyly-ectodermic dysplasia-cleft lip/palate(EEC)syndrome is a rare congenital anomaly of inherited origin and varying clinical features.This syndrome has three main symptoms,which display variable expression an...
Midline Spinal Cord Hamartomas are relatively rare and asymptomatic. These lesions may present with a tethered cord and a normal overlying skin, a skin dimple, a dermal sinus tract or dense collagen. Most patients hav...
This study was supported by a grant from Guangdong Natural Science Foundation in 2006(No.06022455).
Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome, OMIM 103285) is a rarely seen ectodermal dysplasia disorder first described by Propping and Zerres in 1993. ADULT syndrome is known as an autosomal domina...
In vertebrate limb, a group of specialized epithelial cells called Apical Ectodermal Ridge (AER) form at the boundary of dorsal and ventral limb ectoderm. Recent experiments suggest that AER forms at the boundary of F...
Supported by Zhejiang Provincial Natural Science Foundation of China (No.LY19H120005)。
AIM: To report on the clinical features, surgical outcomes and gene mutation analysis of three ectodermal dysplasia probands with ocular diseases. METHODS: A case-note review of three unrelated probands diagnosing wit...
Anhidrotic ectodermal dysplasia (EDA) is a relatively rare congenital hereditary disease. Because of a reduced number of sweat glands, patients are unable to perspire and consequently suffer from hyperthermia and in...
BACKGROUND We report on a large family of Chinese Han individuals with hidrotic ectodermal dysplasia(HED)with a variation in GJB6(c.31G>A).The patients in the family had a triad of clinical manifestations of varying d...
Bone morphogenetic protein (BMP) inhibits neural specification and induces epidermal differentiation during ectodermal patterning. However, the mechanism of this process is not well understood. Here we show that AP2...
The ectodermal dysplasias are rare diseases with hypodontia, hypotrichosis and hypohidrosis. The subject's life is considerably constrained and this from an early age, with major difficulties for the integration and a...