نتایج جستجو برای: hypohidrotic ectodermal dysplasia
تعداد نتایج: 30775 فیلتر نتایج به سال:
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 with hair, teeth, and skin abnormalities, which are serious conditions affecting the quality of life of the patient. To date, a large number of genes have been found to be associated with this syndrome. Here, we ...
Ectodysplasin A (Eda), a member of the tumour necrosis factor superfamily, plays an important role in ectodermal organ development. An EDA mutation underlies the most common of ectodermal dysplasias, that is X-linked hypohidrotic ectodermal dysplasia (XLHED) in humans. Even though it lacks a developmental function, the role of Eda during the postnatal stage remains elusive. In this study, we fo...
the ellis-van creveld (evc) syndrome is a chondroectodermal dysplasia and is characterized by the cardinal features of disproportionate short stature, polydactyly, hidrotic ectodermal dysplasia, and congenital heart malformations, along with other skeletal and dental abnormalities. it is a rare condition, with very few cases reported in the medical literature. it is inherited as an autosomal re...
objectives: ectrodactyly-ectodermal dysplasia-clefting syndrome (eec) is a rare syndrome with features of ectrodactyly, ectodermal dysplasia and cleft lip/palate. this study presents an iranian case with classic features and oral complications. case: we report a 20-year old female with all manifestations of this syndrome. the simultaneous presence of these three malformations is extremely rar...
Correspondence to: Guna Shekhar c/o M.Prakash, 160, 5th Cross, 28th main, sector-1, HSR Layout, Bangalore-102, INDIA E-mail: [email protected] Received for publication: December 04, 2009 Accepted: March 04, 2010 Abstract Hypohidrotic ectodermal dysplasia (HED) is a hereditary syndrome, characterized by a classic triad of hypotrichosis, hypodontia and hypohidrosis. The case of an 8-year-old g...
X-linked hypohidrotic ectodermal dysplasia (XLHED) is characterized by abnormal development of the hair, teeth, and sweat glands. It is caused by mutations in the EDA gene, which maps to the X chromosome and encodes a protein called ectodysplasin-A, a member of the tumor necrosis factor-related ligand family. Affected males typically exhibit all the typical features of HED, but heterozygous car...
The developing submandibular salivary gland (SMG) is a well-studied model for tissue interactions and branching morphogenesis. Its development shares similar features with other ectodermal appendages such as hair and tooth. The ectodysplasin (Eda) pathway is essential for the formation and function of several ectodermal organs. Mutations in the signaling components of the Eda pathway lead to a ...
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