Results 21 to 30 of about 1,792 (188)

EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia. [PDF]

Genes (Basel)
Hypohidrotic ectodermal dysplasia is a developmental defect characterized by sparse or absent hair, missing or malformed teeth and defects in eccrine glands. Loss-of-function variants in the X-chromosomal EDA gene have been reported to cause hypohidrotic
Rietmann SJ, Cochet-Faivre N, Dropsy H, Jagannathan V, Chevallier L, Leeb T.   +5 more
europepmc   +2 more sources

Ectodermal dysplasia

Journal of Indian Academy of Oral Medicine and Radiology, 2009
Hereditary hypohidrotic ectodermal dysplasia, also called the Christ-Siemens-Touraine Syndrome is characterized by congenital dysplasia of one or more ectodermal structures and is manifested by hypohidrosis, hypotrichosis and hypodontia. It is usually an
Sonia Saggoo, Anita Munde, Manjula Hebbale, Manjiri Joshi   +3 more
doaj   +2 more sources

Hypohidrotic Ectodermal Dysplasia: a rare inherited multisystem disorder [PDF]

, 2021
Hypohidrotic ectodermal dysplasia (HED), also known as Christ-Siemens-Touraine syndrome, is a rare X-linked genetic disorder characterized by the faulty development of the ectodermal structures, resulting in most notably anhydrosis/ hypohidrosis ...
Srinithi, R ; Sree Balaji Medical College and Hospital, Bharath Institute of Higher Education and Research, Chennai, Tamil Nadu, India, Ramya, R, Sundari, S   +2 more
core   +2 more sources

HED (Hypohidrotic Ectodermal Dysplasia): A Review [PDF]

, 2021
The ectodermal dysplasias (EDs) are a heterogeneous group of inherited, developmental disorders characterized by alterations in two or more ectodermal structures including the hair, teeth, nails and sweat glands.
Callea M., Willoughby C.E., Bashyam M.D., Scalisi F.C., Yavuz I., Dogan M.S.   +5 more
core   +3 more sources

Prosthodontic Rehabilitation of a Female Child with Ectodermal Dysplasia

Journal of the Dow University of Health Sciences, 2021
Ectodermal Dysplasia (ED) is an X-linked inherited disorder with male predominance. Female patients may show partial expression of Ectodermal Dysplasia. Significant findings include hypodontia, hyposalivation, protuberant lips, conical teeth and loss of
Aleshba Saba Khan, Abdul Mueed Zaigham, Maryam Mumtaz   +2 more
doaj   +1 more source

Anhidrotic Ectodermal Dysplasia in an Adolescent Boy Case Report and Review of Literature

Amrita Journal of Medicine, 2021
Ectodermal dysplasia is a rare genetic disorder due to defects in structures derived from ectoderm. It occurs due to mutation in genes that encode proteins involved in the development of ectodermal structures.
Thirunavukkarasu Arun Babu, Padmapriya Balakrishnan   +1 more
doaj   +1 more source

Hypohidrotic ectodermal dysplasia

Dermatology Online Journal, 2008
We report three children with hypohidrotic ectodermal dysplasia (HED), which includes two sisters with unaffected parents (and therefore likely autosomal recessive inheritance of HED) and an unrelated boy. Each patient presented with hypohidrosis, sparse hair, oligodontia with conical teeth, periorbital hyperpigmentation, eczematous dermatitis, and ...
Lu, Phoebe D, Schaffer, Julie V
openaire   +4 more sources

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

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