Results 151 to 160 of about 2,707 (208)

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

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

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

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

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

[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

Ectodermal organ development : Regulation by Notch and Eda pathways [PDF]

, 2004
Mustonen, Tuija
core  

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: Classical Clinical Features

Indian Pediatrics
Pratibha, Gupta, Sonia, Agrawal, Chander, Grover   +2 more
openaire   +2 more sources

A novel frameshift mutation in the EDA gene in an Iranian patient affected by X-linked hypohidrotic ectodermal dysplasia. [PDF]

Cell Mol Biol Lett, 2019
Rahbaran M, Hassani Doabsari M, Salavitabar S, Mokhberian N, Morovvati Z, Morovvati S.   +5 more
europepmc   +1 more source