This gene was identified by its association with ectodermal dysplasia, and specifically with hypohidrotic ectodermal dysplasia, a genetic disorder characterized by defective development of hair, teeth, and eccrine sweat glands.
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If a female is operating on her carrier X she will show symptoms . In about 70 percent of cases, carriers of hypohidrotic ectodermal dysplasia experience some features of the condition.
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For instance, iPS cell lines derived from patients affected by ectodermal dysplasia syndrome ( EEC ), in which the p63 gene is mutated, display abnormal epithelial commitment that could be partially rescued by a small compound
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This condition is also known as Brauer syndrome ( hereditary symmetrical aplastic nevi of temples, bitemporal aplasia cutis congenita, bitemporal aplasia cutis congenita : OMIM ) and Setleis syndrome ( facial ectodermal dysplasia : OMIM ).
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Ectodermal dysplasias are described as " heritable conditions in which there are abnormalities of two or more ectodermal structures such as the hair, teeth, nails, sweat glands, salivary glands, cranial-facial structure, digits and other parts of the body ."
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"' Dermatopathia pigmentosa reticularis ( DPR ) "', also known as "'dermatopathia pigmentosa reticularis hyperkeratotica et mutilans "', "'dermatopathia pigmentosa reticularis hypohidotica et atrophica "'and "'dermatopathic pigmentosa reticularis "', is a rare, autosomal dominant congenital disorder that is a form of ectodermal dysplasia.
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TP63 mutations underlie several malformation syndromes that include cleft lip and / or palate as a hallmark feature . cleft lip / palate syndrome 3 ( EEC3 ); ectrodactyly ( also known as split-hand / foot malformation 4 ( SHFM4 ) ); ankyloblepharon-ectodermal dysplasia-cleft lip / palate ( AEC ) or Hay Wells syndrome in which a midline cleft lip is also a common feature,
How to say ectodermal dysplasia in Hindi and what is the meaning of ectodermal dysplasia in Hindi? ectodermal dysplasia Hindi meaning, translation, pronunciation, synonyms and example sentences are provided by Hindlish.com.
