Results 101 to 110 of about 18,314 (251)

Holoprosencephaly in an Egyptian baby with ectrodactyly-ectodermal dysplasia-cleft syndrome: a case report

Journal of Medical Case Reports, 2012
Introduction Ectrodactyly-ectodermal dysplasia-cleft lip or palate syndrome (OMIM No. 129900) is characterized by the triad of ectrodactyly, ectodermal dysplasia and facial clefting (of the lip and/or palate).
Metwalley Kalil Kotb, Fargalley Hekma
doaj   +1 more source

p63 regulates multiple signalling pathways required for ectodermal organogenesis and differentiation [PDF]

, 2006
Heterozygous germline mutations in p63, a transcription factor of the p53 family, result in abnormal morphogenesis of the skin and its associated structures, including hair follicles and teeth.
James, M., Laurikkala, J., Mikkola, M. L., Mills, A. A., Thesleff, I., Tummers, M.   +5 more
core   +1 more source

Síndrome poliglandular autoimune tipo 1: descrição de caso e revisão da literatura [PDF]

, 2012
Autoimmune polyendocrine syndrome type 1 (APECED) is a rare autosomal recessive disorder characterized by autoimmune multiorgan attack. The disease is caused by mutations in the autoimmune regulator gene (AIRE), resulting in defective AIRE protein, which
Dias-da-Silva, Magnus Régios, Lazaretti-Castro, Marise, Weiler, Fernanda Guimarães   +2 more
core   +2 more sources

The Ectodermal Dysplasias : Severe Palmoplantar Hyperkeratosis And Chronic Angular Cheilitis

Indian Journal of Dermatology, 2003
The ectodermal dysplasias are congenital, non-progressive and diffuse disorders affecting primarily the tissues derived from ectoderm. Over a period, their classification has become confusing due to indiscriminate use of them “ectodermal ...
Mahajan Vikram K, Sharma N L, Sood Ashwani   +2 more
doaj  

Prosthodontic Rehabilitation of Hereditary Ectodermal Dysplasia in an 11-Year-Old Patient with Flexible Denture: A Case Report

Case Reports in Dentistry, 2012
Hereditary ectodermal dysplasia is a rare group of inherited disorders characterized by aplasia or dysplasia of two or more tissues of ectodermal origin such as hair, nails, teeth, and skin.
Neha Jain, Dinesh Naitam, Arti Wadkar, Anuradha Nemane, Shiva Katoch, Ashish Dewangan   +5 more
doaj   +1 more source

Hypohidrotic ectodermal dysplasia with anodontia: A rare case-rehabilitation by prosthetic management

Journal of Indian Academy of Oral Medicine and Radiology, 2012
Ectodermal dysplasia is a hereditary disorder characterized by developmental dystrophies of ectodermal derivatives- It is characterized by triad of signs comprising sparse hair, abnormal or missing teeth and inability to sweat.
M Naveen Kumar, P Srinivas, S Ramadevi, S Raghavendra Prasad, P Ajayprakash, M Sudhakar   +5 more
doaj   +1 more source

Genetic basis of dental agenesis - molecular genetics patterning clinical dentistry [PDF]

, 2013
Tooth agenesis is one of the most common congenital malformations in humans. Hypodontia can either occur as an isolated condition (non-syndromic hypodontia) or can be associated with a syndrome (syndromic hypodontia), highlighting the heterogeneity of ...
Chhabra, Anuj, Chhabra, Nidhi, Goswami, Mridula   +2 more
core   +1 more source

Mechanisms and molecular regulation of mammalian tooth replacement [PDF]

, 2008
In most non-mammalian vertebrates, such as fish and reptiles, teeth are replaced continuously. However, tooth replacement in most mammals, including human, takes place only once and further renewal is apparently inhibited.
Järvinen, Elina
core  

Anodontia: Report of a case associated with ectodermal dysplasia of the anhidrotic type [PDF]

, 1944
Ronald Grant, Harold F. Falls
openalex   +1 more source

Hereditary Ectodermal Dysplasia in Two Identical Siblings

Acta Medica Bulgarica
Primary defects in two or more ectodermally-derived tissues during embryonic development characterize ectodermal dysplasia, a vast, varied group of inherited illnesses. Skin, hair, nails, eccrine glands, and teeth are the primary tissues affected.
Sarkar A. S., Rao K., Ajila V.
doaj   +1 more source