Results 171 to 180 of about 3,344 (220)

Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature. [PDF]

Ital J Pediatr
Kablan A, Tasdelen E.
europepmc   +1 more source

A novel EDA1 missense mutation in X-linked hypohidrotic ectodermal dysplasia. [PDF]

Medicine (Baltimore), 2020
Wang X, Zhang Z, Yuan S, Ren J, Qu H, Zhang G, Chen W, Zheng S, Meng L, Bai J, Du Q, Yang D, Shen W.   +12 more
europepmc   +1 more source

A Novel X-Linked Disorder of Immune Deficiency and Hypohidrotic Ectodermal Dysplasia Is Allelic to Incontinentia Pigmenti and Due to Mutations in IKK-gamma (NEMO) [PDF]

, 2000
Jonathan Zonana, Melissa E. Elder, Lynda C. Schneider, Seth J. Orlow, Celia Moss, Mahin Golabi, Stuart K. Shapira, Peter Farndon, Diane W. Wara, Stephanie A. Emmal, Betsy Ferguson   +10 more
openalex   +1 more source

Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia [PDF]

, 2001
Marie Claire Vincent, Valérie Biancalana, Danièle Ginisty, Jean‐Louis Mandel, Patrick Calvas   +4 more
openalex   +1 more source

Female Patient Showing Hypohidrotic Ectodermal Dysplasia and Immunodeficiency (HED-ID) [PDF]

, 2001
Kenjiro Kosaki, Noriko Shimasaki, Hiroyuki Fukushima, Mitsuhiro Hara, Tsutomu Ogata, Nobutake Matsuo   +5 more
openalex   +1 more source

Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study. [PDF]

Orphanet J Rare Dis, 2020
Wohlfart S, Meiller R, Hammersen J, Park J, Menzel-Severing J, Melichar VO, Huttner K, Johnson R, Porte F, Schneider H.   +9 more
europepmc   +1 more source

Palatal Size and Shape in 6-Year Olds Affected by Hypohidrotic Ectodermal Dysplasia [PDF]

, 2006
Claudia Dellavia, Chiarella Sforza, Angela Malerba, L Strohmenger, Virgilio F. Ferrario   +4 more
openalex   +1 more source

Hypohidrotic ectodermal dysplasia in association with milia

Indian Journal of Dermatology, Venereology, and Leprology, 2014
Ashok Kumar Khare, Lalit Kumar Gupta, CM Kuldeep, Nidheesh Agarwal, Sharad Mehta, Asit Mittal   +5 more
openaire   +2 more sources

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

Definitive Evidence for an Autosomal Recessive Form of Hypohidrotic Ectodermal Dysplasia Clinically Indistinguishable rom the More Common X-Linked Disorde

, 1997
R. Munoz, G.G. Lestringant, Virginia P. Sybert, Moshe Frydman, A. Alswaini, Philippe M. Frossard, Ronald J. Jorgenson, J. Zonana   +7 more
openalex   +1 more source