Results 91 to 100 of about 1,200 (161)

HYPOHIDROTIC ECTODERMAL DYSPLASIA.

Journal of Ayub Medical College, Abbottabad : JAMC, 2016
Manas, Bajpai, Nilesh, Pardhe
openaire   +3 more sources

Three Variants Affecting Exon 1 of Ectodysplasin A Cause X-Linked Hypohidrotic Ectodermal Dysplasia: Clinical and Molecular Characteristics. [PDF]

Front Genet, 2022
Wang Y, Zhang C, Zhou B, Hui L, Zheng L, Chen X, Wang S, Yang L, Hao S, Zhang Q.   +9 more
europepmc   +1 more source

Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia. [PDF]

Orphanet J Rare Dis
Kovalskaia VA, Cherevatova TB, Zinina EV, Shagina OA, Vorontsova EO, Matyushchenko GN, Demina NA, Petukhova MP, Markova TV, Guseva DM, Galkina VA, Anisimova IV, Stepanova AA, Chuhrova AL, Sharova MV, Bostanova FM, Voskanyan AE, Polyakov AV, Ryzhkova OP.   +18 more
europepmc   +1 more source

A Hybrid Oral Rehabilitation of Hypohidrotic Ectodermal Dysplasia: A Conservative Approach with Three-Year Follow-Up. [PDF]

Case Rep Dent, 2021
Kaushik A, Sinha H, Hombesh MN, Rani P, Kaur T.   +4 more
europepmc   +1 more source

Case Report: Fatal pneumonia as a manifestation of X-linked hypohidrotic ectodermal dysplasia: clinical phenotype and genotype characterization of a novel <i>EDA</i> frameshift variant in a four-generation pedigree. [PDF]

Front Pediatr
Liu H, Zhao R, Liu H, Duan W, Li Y, Jin B, Gong Y.   +6 more
europepmc   +1 more source

X-linked Recessive Ectodysplasin A Mutations Induced Hypohidrotic Ectodermal Dysplasia and Severe Atopic Dermatitis Successfully Treated with Dupilumab. [PDF]

Acta Derm Venereol
Lu L, Feng J, He H, Peng Y, Zhang S, Yang L, Liu Y, Wang T.   +7 more
europepmc   +1 more source

Protocol for the Phase 2 EDELIFE Trial Investigating the Efficacy and Safety of Intra-Amniotic ER004 Administration to Male Subjects with X-Linked Hypohidrotic Ectodermal Dysplasia. [PDF]

Genes (Basel), 2023
Schneider H, Hadj-Rabia S, Faschingbauer F, Bodemer C, Grange DK, Norton ME, Cavalli R, Tadini G, Stepan H, Clarke A, Guillén-Navarro E, Maier-Wohlfart S, Bouroubi A, Porte F.   +13 more
europepmc   +1 more source

A case study of a novel homozygous EDAR splice site variant in hypohidrotic ectodermal dysplasia with tooth agenesis: molecular dynamics insights. [PDF]

BMC Med Genomics
Nejati P, Khosravi T, Lorestani S, Oladnabi M.   +3 more
europepmc   +1 more source

A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family. [PDF]

BMC Pregnancy Childbirth
Yao L, Wan L, Lin Y, Zhang Y, Cai X, Ye J, He G, Zhu B, Zhang J.   +8 more
europepmc   +1 more source

Hypohidrotic ectodermal dysplasia

Journal of the Pediatrics Association of India, 2013
Ratna Yumkham, KoijamSashikumar Singh, NameirakpamAnthopia Devi, WaikhamRabindro Singh   +3 more
openaire   +1 more source