Results 41 to 50 of about 78,340 (172)

Christ Siemens Touraine syndrome: Two case reports and felicitous approaches to prosthetic management

Contemporary Clinical Dentistry, 2015
Ectodermal dysplasia is a heterogeneous group of inherited disorders, which exhibit a classic triad of hypohydrosis, hypotrichosis, and hypodontia. Hypohidrotic or anhidrotic ectodermal dysplasia or Christ Siemens Touraine syndrome is the most common ...
Navanith Renahan, Renju Raj, R Balagopal Varma, J Suresh Kumar   +3 more
doaj   +1 more source

Hereditary Hypohidrotic Ectodermal Dysplasia: Report of a Rare Case [PDF]

Journal of Clinical and Diagnostic Research, 2013
Hereditary Hypohidrotic Ectodermal Dysplasia (HHED), an X-linked, recessive, Mendelian character, is seen usually in males and it is inherited through female carriers.
Geetha Paramkusam, Venkateswarlu Meduri, Lakshmi Kavitha Nadendla, Namratha Shetty   +3 more
doaj   +1 more source

X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED): A Case Report and Overview of the Diagnosis and Multidisciplinary Modality Treatments

Cureus, 2023
Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder caused by a mutation in either the ectodysplasin (EDA), ectodysplasin A receptor (EDAR), EDAR associated via death domain (EDARADD), or Wnt family member 10A (WNT10A) genes that result in
H. Aftab, Ivan A Escudero, Fatin Sahhar
semanticscholar   +1 more source

Ectodermal dysplasia - Maxillary and mandibular alveolar reconstruction with dental rehabilitation: A case report and review of the literature

Indian Journal of Plastic Surgery, 2010
Ectodermal dysplasia is a rare group of inherited disorders characterized by aplasia or dysplasia of tissues of ectodermal origin, such as hair, nails, teeth and skin. Dental manifestations include hypodontia, complete anodontia or malformed teeth.
Deshpande Sanjeev, Kumar Vikas
doaj   +3 more sources

Positive Selection in East Asians for an EDAR Allele that Enhances NF-κB Activation [PDF]

, 2008
Genome-wide scans for positive selection in humans provide a promising approach to establish links between genetic variants and adaptive phenotypes.
Hughes, David, Myles, Sean, Strotmann, Rainer, Stoneking, M. ; https://orcid.org/, Hughes, D., Pugach, Irina, Hardouin, Emilie, Stajich, Jason E., Jarosław Bryk, Pugach, I., Sean Myles, Hughes, D. ; https://orcid.org/, Jarosław Bryk, Mark Stoneking, Stoneking, Mark, Myles, S., Bryk, J., Bryk, Jarosław, Stoneking, M., Bryk, Jarek, Emilie Hardouin, Hughes, David A., Hardouin, E., Pugach, I. ; https://orcid.org/, Rainer Strotmann, Hardouin, E. ; https://orcid.org/, Myles, S. ; https://orcid.org/, Irina Pugach, David Hughes, Hardouin, E.A., Strotmann, R.   +30 more
core   +1 more source

Hypohidrotic and hidrotic ectodermal dysplasia: a report of two cases [PDF]

, 2013
Ectodermal dysplasias are a large group of syndromes characterized by anomalies in the structures of ectodermal origin. There are 2 major types of this disorder, based on clinical findings: hypohidrotic ectodermal dysplasia and hidrotic ectodermal ...
Vasconcelos Carvalho, Marianne, Fonseca Faro, Tatiane, Romero Souto de Sousa, José, Nunes Santos, Ana Clara, Paiva Correa de Melo, Filipe, Carvalho, Silvia, Veras Sobral, Ana Paula   +6 more
core   +1 more source

Hypohidrotic ectodermal dysplasia and finger clubbing – An unknown association

Asian Journal of Medical Sciences, 2014
The ectodermal dysplasias are heterogenous group of inherited disorders with primary defects in tissues derived from embryonic ectoderm such as hair, tooth, nail and sweat gland.
Amit Sarkar
doaj   +1 more source

Identification of six novel mutations in EDA from 20 hypohidrotic ectodermal dysplasia families.

Oral Diseases, 2023
OBJECTIVE To investigate the genetic causes of 22 patients with clinically high suspicion of X-linked hypohidrotic ectodermal dysplasia from 20 unrelated Chinese families, expand the spectrum of ectodysplasin-A mutations, and provide more evidence for ...
Qin Xing, Qi-Min Zhou, Hongyan Li, Zhongjie Wang, Shun Li, Jiayu Wu, Hui-Min Zhu, D. Liang, Zhuo Li, Lingqian Wu   +9 more
semanticscholar   +1 more source

Christ-Siemens-Touraine Syndrome: Case Report of 2 Brothers [PDF]

Journal of Clinical and Diagnostic Research, 2014
Ectodermal dysplasia is a rare disorder. Christ-Siemens-Touraine syndrome (Hypohidrotic Ectodermal dysplasia (HED)) is a diffuse, non-progressive disease present at birth and involves at least two tissues of ectodermal origin.
RITA V VORA, GOPIKRISHNAN ANJANEYAN, ARVIND CHAUDHARI, ABHISHEK P PILANI   +3 more
doaj   +1 more source

First report of X-linked hypohidrotic ectodermal dysplasia with a hemizygous c.1142G > C in the EDA gene: variant of uncertain significance or new pathogenic variant?

Italian Journal of Pediatrics, 2021
Background Hypohidrotic Ectodermal Dysplasia (HED) is a genetic disorder which affects structures of ectodermal origin. X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common form of disease.
Mario Tumminello, Antonella Gangemi, Federico Matina, Melania Guardino, Bianca Lea Giuffrè, Giovanni Corsello   +5 more
doaj   +1 more source