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Ectodermal dysplasia "4," "hair/nail" type
- ... protein disrupts Wnt signaling during the development of ectodermal tissues, including the skin, hair, nails, teeth, and sweat ... SYNDROME; SSPS ODONTOONYCHODERMAL DYSPLASIA; OODD WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER ...
- ... Touraine syndrome CST syndrome HED Genetic Testing Registry: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant Genetic Testing Registry: Ectodermal dysplasia 10B, ...
- ... dermatopathia pigmentosa reticularis (NFJS/DPR) represents a rare type of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands. NFJS and DPR were ...
- ... combinations of ectodermal abnormalities (which affect the skin, hair, nails, ... type 4 (SHFM4), a condition involving hand and foot malformations ...
- ... Clouston hidrotic ectodermal dysplasia Clouston's syndrome ECTD2 Ectodermal dysplasia 2, Clouston type HED2 Hidrotic ectodermal dysplasia 2 Genetic Testing Registry: ...
- ... bones; and abnormalities of certain tissues known as ectodermal tissues, which include the teeth, hair, nails, and skin.The IFT43 gene mutation involved in cranioectodermal dysplasia leads to production of an abnormally short IFT43 ...
- ... bones; and abnormalities of certain tissues known as ectodermal tissues, which include the teeth, hair, nails, and skin.The WDR35 gene mutations involved in cranioectodermal dysplasia reduce the amount of functional WDR35 protein. A ...
- ... This disorder is a rare form of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands. NFJS and DPR were ...
- ... bones; and abnormalities of certain tissues known as ectodermal tissues, which include the teeth, hair, nails, and skin.At least six IFT122 gene mutations have been found in people with cranioectodermal dysplasia. These mutations reduce the amount or function of ...
- ... of normal cilia impedes proper development of bone, ectodermal tissues, and other tissues and organs, leading to the features of cranioectodermal dysplasia.About 40 percent of people with cranioectodermal dysplasia have mutations in one of the four known genes. The cause of the condition in ...