Results 91 to 100 of about 3,496 (219)

Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway [PDF]

, 2019
An international advisory group met at the National Institutes of Health in Bethesda, Maryland in 2017, to discuss a new classification system for the ectodermal dysplasias (EDs) that would integrate both clinical and molecular information.
Abbott, Becky, Bergendal, Birgitta, Butcher, Clayton, Clarke, Angus J., D'Souza, Rena N., Fete, Mary, Fete, Timothy, Hadj-Rabia, Smail, Koster, Maranke I., Morasso, Maria I., Pagnan, Nina, Schneider, Holm, Stanford, Clark, Sybert, Virginia P., Tadini, Gianluca, Visinoni, Atila F., Wright, John Timothy, Zinser, Madelaine   +17 more
core   +2 more sources

Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature

Molecular Genetics &Genomic Medicine, Volume 12, Issue 4, April 2024.
Patients with congenital insensitivity to pain with anhidrosis typically present with cellulitis in their fingers and toes, often leading to amputation due to self‐mutilating behavior. Osteodystrophy can result from a history of recurrent infections and surgeries.
Jun Hee Cho, Soojin Hwang, Yoon Hae Kwak, Mi‐Sun Yum, Go Hun Seo, June‐Young Koh, Young Seok Ju, Ji‐Hee Yoon, Minji Kang, Hyo‐Sang Do, Soyoung Kim, Gu‐Hwan Kim, Hyunwoo Bae, Beom Hee Lee   +13 more
wiley   +1 more source

Ocular Features in Ectrodactyly–ectodermal Dysplasia Sans–clefting Syndrome: A Rare Case Report

Delhi Journal of Ophthalmology
Ectrodactyly–ectodermal dysplasia–clefting syndrome is a rare autosomal dominant disorder with variable expression and penetrance and involves both ectodermal and mesodermal tissues.
Rekha R. Khandelwal, Deepa Ajitkumar, Sushil Pande   +2 more
doaj   +1 more source

Biological activity of ectodysplasin A is conditioned by its collagen and heparan sulfate proteoglycan-binding domains. [PDF]

, 2009
Mutations in the TNF family ligand EDA1 cause X-linked hypohidrotic ectodermal dysplasia (XLHED), a condition characterized by defective development of skin appendages.
Demotz, S., Favre, M., Gaide, O., Ingold-Salamin, K., Mikkola, M., Schneider, P., Swee, L.K., Tardivel, A., Willen, L.   +8 more
core   +3 more sources

Biologics for inherited disorders of keratinisation: A systematic review

Australasian Journal of Dermatology, Volume 65, Issue 2, Page 185-214, March 2024.
Abstract Background/Objectives Recent literature highlights the potential of biologics in the management of inherited disorders of keratinisation. In this study, we conducted a systematic review of existing literature on treatment outcomes of inherited keratinisation disorders treated with biologics.
Michelle K. Y. Chen, Alice L. Flanagan, Deshan F. Sebaratnam, Yaron Gu   +3 more
wiley   +1 more source

Genetic characterization of congenital defects in dogs : caudal dysplasia, ectodermal dysplasia and mucopolysaccharidosis VII [PDF]

, 2013
Since the sequencing of the Canis lupus familiaris genome the dog has become a powerful tool for scientists. Selective breeding has created more than 400 different breeds each representing genetic isolates with breed-specific morphological and behavioral
Hytönen, Marjo
core  

Expanded carrier screening: A current perspective [PDF]

, 2018
Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb, Berghella, V, Carbone, Luigi, D'Alessandro, P, De Vivo, V, Esposito, G, Giuliani, Arduino, Maruotti, Gm, Mastantuoni, Enrica, Paternoster, M, Raffone, A, Saccone, G, Zullo, F.   +12 more
core   +1 more source

Fetal gene therapy

Journal of Inherited Metabolic Disease, Volume 47, Issue 1, Page 192-210, January 2024.
Abstract Fetal gene therapy was first proposed toward the end of the 1990s when the field of gene therapy was, to quote the Gartner hype cycle, at its “peak of inflated expectations.” Gene therapy was still an immature field but over the ensuing decade, it matured and is now a clinical and market reality. The trajectory of treatment for several genetic
Simon N. Waddington, William H. Peranteau, Ahad A. Rahim, Ashley K. Boyle, Manju A. Kurian, Paul Gissen, Jerry K. Y. Chan, Anna L. David   +7 more
wiley   +1 more source

Prosthetic rehabilitation with fixed prosthesis of a 5-year-old child with Hypohidrotic Ectodermal Dysplasia and Oligodontia: a case report

Journal of Medical Case Reports, 2019
Background Ectodermal dysplasia is a rare genetic disorder that affects ectodermally derived structures, including teeth, nails, hair, and sweat glands.
Reema AlNuaimi, Mohammad Mansoor
doaj   +1 more source

Hypohidrotic (anhidrotic) ectodermal dysplasia in female twins [PDF]

, 2012
Autosomal recessive hereditary ectodermal dysplasia (HED) has not been described in sub‑Saharan Africa. It is acknowledged to be rarer than the occasionally reported x‑linked and autosomal dominant variants. We report a pair of Nigerian female twins with
Ajike, SO, Ige, SO, Ogunrinde, GO, Zubair, RO   +3 more
core   +2 more sources