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 …
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 …
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 …
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 …
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)
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 …
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 …
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 …
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 …
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 …
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 …
of development of the tissues derived from the embryonic ectoderm. ED is often associated …
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