Results 141 to 150 of about 1,792 (188)

Pathogenic EDA Mutations in Chinese Han Families With Hypohidrotic Ectodermal Dysplasia and Genotype-Phenotype: A Correlation Analysis. [PDF]

Front Genet, 2020
Han Y, Wang X, Zheng L, Zhu T, Li Y, Hong J, Xu C, Wang P, Gao M.   +8 more
europepmc   +1 more source

Complete Phenotypic Expression of Hypohidrotic Ectodermal Dysplasia in a Female Patient.

Indian J Dermatol, 2020
Sen S, Das S, Sharma S.
europepmc   +1 more source

[Hypohidrotic ectodermal dysplasia].

Anales de pediatria (Barcelona, Spain : 2003), 2005
S, Campuzano Martín, J, Santos-Juanes, A, Medina Villanueva, J, Sánchez Del Río   +3 more
openaire   +1 more source

Early recognition of hypohidrotic ectodermal dysplasia

Head & Face Medicine, 2012
Schneider Holm
doaj   +1 more source

Hypohidrotic ectodermal dysplasia and physical exercise

Head & Face Medicine, 2012
Hammersen Johanna E
doaj   +1 more source

Disease-associated NEMO mutations as a tool to unravel the key molecular mechanisms in NF-kappaB activation

, 2009
Pescatore, Alessandra
core  

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, Burcu Özbaran, Sezen Kose   +2 more
exaly   +5 more sources

Hypohidrotic Ectodermal Dysplasia and Intrathoracic Neuroblastoma

Pediatric Dermatology, 2007
Abstract:  We report a 6‐year‐old girl with a subtle form of hypohidrotic ectodermal dysplasia and a phenotype consisting of curly hair, a round face, a stocky build, and obesity, which was associated with intrathoracic neuroblastoma. Although this new association could be a chance occurrence, its description may alert physicians to look for similar ...
Buoni S, Zannolli R, Macucci F, Molinelli M, Viviano M, Cuccia A, Hayek J, VOLTERRANI, LUCA, de Santi MM, MIRACCO, CLELIA, Fois A.   +10 more
openaire   +4 more sources

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A Case of Hypohidrotic Ectodermal Dysplasia

Journal of Dermatology, 1999
AbstractHypohidrotic ectodermal dysplasia (HED) is a rare, hereditary, congenital disease that affects several ectodermal structures. It is characterised by the following: anhidrosis or hypohidrosis, dental abnormalities, hypotrichosis, and a characteristic facies.
Sung Yul Lee, Jong Suk Lee, Kyu Uang Whang   +2 more
exaly   +3 more sources