Results 131 to 140 of about 3,496 (219)

Novel EDA or EDAR Mutations Identified in Patients with X-Linked Hypohidrotic Ectodermal Dysplasia or Non-Syndromic Tooth Agenesis [PDF]

, 2017
Binghui Zeng, Qi Zhao, Sijie Li, Hui Lu, Jiaxuan Lu, Lan Ma, Wei Zhao, Dongsheng Yu   +7 more
openalex   +1 more source

Hypohidrotic ectodermal dysplasia presenting with atrophic rhinitis and nasal myiasis in a child

, 2015
AS Bagul, AK Niswade, Pawan Kalamdani, MS Supare   +3 more
openalex   +1 more source

A novel mutation in the collagen domain of EDA results in hypohidrotic ectodermal dysplasia by impacting the receptor-binding capability. [PDF]

Mol Genet Genomic Med, 2023
Liu X, Zhao Y, Zhu J.
europepmc   +1 more source

Hypohidrotic ectodermal dysplasia: A case report with review and latest updates. [PDF]

J Oral Maxillofac Pathol, 2022
Bagdey SP, Moharil RB, Dive A, Bodhade A.   +3 more
europepmc   +1 more source

Hypohidrotic Ectodermal Dysplasia [PDF]

, 2020
ELBEK ÇUBUKÇU, ÇİĞDEM, ÖZKINAY, FERİŞTAH FERDA, ÖNÇAĞ, RÜŞTÜ ÖZANT   +2 more
openaire   +3 more sources

A Rare Case of Hypohidrotic Ectodermal Dysplasia in a Seven-Year-Old Child. [PDF]

Cureus, 2022
Shah SAY, Hassan WU, Sajjad W, Shabbir UB, Raza A.   +4 more
europepmc   +1 more source

X‐linked hypohidrotic ectodermal dysplasia: clinical and molecular genetic analysis of a large Russian family with a synonymous p.Ser267= (c.801A>G) splice site mutation [PDF]

, 2019
Tatiana Cherevatova, O. A. Schagina, V Freire, Nina Demina, Alexandra Filatova, Mikhail Skoblov, A. A. Stepanova, Alena Chuhrova, A. V. Polyakov   +8 more
openalex   +1 more source

Hypohidrotic ectodermal dysplasia. [PDF]

Journal of Medical Genetics, 1987
openaire   +2 more sources

A Causal Treatment for X-Linked Hypohidrotic Ectodermal Dysplasia: Long-Term Results of Short-Term Perinatal Ectodysplasin A1 Replacement. [PDF]

Int J Mol Sci, 2023
Schneider H, Schweikl C, Faschingbauer F, Hadj-Rabia S, Schneider P.   +4 more
europepmc   +1 more source

Rare X-Linked Hypohidrotic Ectodermal Dysplasia in Females Associated with Ectodysplasin-A Variants and the X-Chromosome Inactivation Pattern. [PDF]

Diagnostics (Basel), 2022
Liu H, Su L, Liu H, Zheng J, Feng H, Liu Y, Yu M, Han D.   +7 more
europepmc   +1 more source