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.
42.
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.
43.
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
44.
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 ).
45.
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 ."
46.
"' 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.
47.
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,
