A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia

R Tao, B Jin, SZ Guo, W Qing, GY Feng… - Journal of human …, 2006 - nature.com
X-linked hypohidrotic ectodermal dysplasia (HED) is a rare disease characterized by the
hypoplasia or absence of eccrine glands, dry skin, scant hair, and dental abnormalities …

Mutations in the EDA gene are responsible for Xlinked hypohidrotic ectodermal dysplasia and hypodontia in Chinese kindreds

H Fan, X Ye, L Shi, W Yin, B Hua… - European Journal of …, 2008 - Wiley Online Library
Xlinked hypohidrotic ectodermal dysplasia (XLHED, OMIM 305100) is a rare congenital
disorder that results in the defective development of teeth, hair, nails, and eccrine sweat …

A novel de novo frame-shift mutation of the EDA gene in a Chinese Han family with hypohidrotic ectodermal dysplasia

C Huang, Q Yang, T Ke, H Wang, X Wang… - Journal of human …, 2006 - nature.com
Hypohidrotic ectodermal dysplasia (HED) is characterized by severe hypohidrosis,
hypotrichosis, and hypodontia. It can be inherited in autosomal dominant, autosomal …

Correlation between the phenotypes and genotypes of X-linked hypohidrotic ectodermal dysplasia and non-syndromic hypodontia caused by ectodysplasin-A …

J Zhang, D Han, S Song, Y Wang, H Zhao… - European journal of …, 2011 - Elsevier
Mutations in the ectodysplasin-A (EDA) gene can cause both X-linked hypohidrotic
ectodermal dysplasia (XLHED) and non-syndromic hypodontia (NSH). The correlation …

Non-syndromic tooth agenesis in two Chinese families associated with novel missense mutations in the TNF domain of EDA (ectodysplasin A)

S Li, J Li, J Cheng, B Zhou, X Tong, X Dong, Z Wang… - PloS one, 2008 - journals.plos.org
Here we report two unrelated Chinese families with congenital missing teeth inherited in an
X-linked manner. We mapped the affected locus to chromosome Xp11-Xq21 in one family. In …

Non-syndromic Tooth Agenesis Associated with a Nonsense Mutation in Ectodysplasin-A (EDA)

T Nikopensius, T Annilo, T Jagomägi… - Journal of dental …, 2013 - journals.sagepub.com
Mutations in the ectodysplasin-A (EDA) gene have been generally associated with X-linked
hypohidrotic ectodermal dysplasia (XLHED). Recently, missense mutations in EDA have …

Orofacial features of hypohidrotic ectodermal dysplasia

SN de Aquino, LMR Paranaíba, MSO Swerts… - Head and neck …, 2012 - Springer
Hypohidrotic ectodermal dysplasia (HED) is a type of genodermatosis characterized by the
abnormal development of sweat glands, teeth, and hair. The most prevalent form of HED is X …

[PDF][PDF] Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations

AW Monreal, J Zonana, B Ferguson - The American Journal of Human …, 1998 - cell.com
X-linked hypohidrotic ectodermal dysplasia (XLHED), the most common of the ectodermal
dysplasias, results in the abnormal development of teeth, hair, and eccrine sweat glands …

Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia

MC Vincent, V Biancalana, D Ginisty… - European Journal of …, 2001 - nature.com
X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common form of the
ectodermal dysplasias characterised by an abnormal development of eccrine sweat glands …

[PDF][PDF] EDA mutation as a cause of hypohidrotic ectodermal dysplasia: a case report and review of the literature

SX Huang, JL Liang, WG Sui, H Lin, W Xue… - Genet. Mol …, 2015 - m.jstshuichan.com
Ectodermal dysplasia (ED) represents a collection of rare disorders that result from a failure
of development of the tissues derived from the embryonic ectoderm. ED is often associated …