Results 161 to 170 of about 2,841 (212)

Genetic complexity underlies clinical heterogeneity: YWTD β-propeller mutations and second-hit modifier mutations in LRP6-related tooth agenesis and ectodermal dysplasia in human. [PDF]

Genes Dis
Dong X, Yu M, Jia Z, Bai J, Zhang J, Ling S, Guan L, Lu Y, Han D, Gu X.   +9 more
europepmc   +1 more source

Genetic profiling and diagnostic strategies for patients with ectodermal dysplasias in Korea. [PDF]

Orphanet J Rare Dis
Kim MJ, Lee JS, Chae SW, Cho SI, Moon J, Ko JM, Chae JH, Seong MW.   +7 more
europepmc   +1 more source

Case Report: Novel pathogenic variant in autosomal recessive <i>WNT10A</i>-related odonto-onycho-dermal dysplasia. [PDF]

Front Genet
Kalaszi M, Moore C, Koniari C, Mavridis T.   +3 more
europepmc   +1 more source

Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia. [PDF]

BMC Oral Health
Liu Y, Sun J, Zhang C, Wu Y, Ma S, Li X, Wu X, Gao Q.   +7 more
europepmc   +1 more source

In utero genetic therapy: Treatment of early onset neurological disorders before they start. [PDF]

Mol Ther
Borges B, Brown SM, MacKenzie TC, Sumner CJ.   +3 more
europepmc   +1 more source

The oligodontia phenotype in a X-linked hypohidrotic ectodermal dysplasia patient with a novel EVC2 variant. [PDF]

Heliyon
Wu Y, Sun J, Zhang C, Ma S, Liu Y, Wu X, Gao Q.   +6 more
europepmc   +1 more source

Prenatal therapies: a Points to Consider framework for responsible innovation. [PDF]

BMC Med Genomics
Meslin EM, Kant C, Mazzuri S, Knoppers BM.   +3 more
europepmc   +1 more source

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Hypohidrotic Ectodermal Dysplasia: A Multidisciplinary Approach

International Journal of Psychiatry in Medicine, 2012
Hypohidrotic ectodermal dysplasia (HED; Christ-Siemens-Touraine syndrome) is a genetic disorder characterized by sparse hair, oligodontia with peg-shaped teeth, reduced sweating, and defects in a number of other ectodermal organs. A partial or complete absence of eccrine glands can lead to recurrent severe overheating that may cause seizures and ...
Tezan Bildik, Sezen Köse
exaly   +3 more sources