Pathogenic EDA Mutations in Chinese Han Families With Hypohidrotic Ectodermal Dysplasia and Genotype–Phenotype: A Correlation Analysis
Y Han, X Wang, L Zheng, T Zhu, Y Li, J Hong… - Frontiers in …, 2020 - frontiersin.org
Background This study aimed to investigate the genetic causes of hypohidrotic ectodermal
dysplasia (HED) in two families and elucidate the molecular pathogenesis of HED in …
dysplasia (HED) in two families and elucidate the molecular pathogenesis of HED in …
[PDF][PDF] Ektodermal Displazili Olgularda Klinik ve Radyolojik Bulguların İncelenmesi
Amaç: Ektodermal displazi; deri, tırnak, saç, ter bezleri ve diş gibi ektoderm kaynaklı dokuları
etkileyen ve nadir olarak rastlanan kalıtsal bir hastalıktır. Bu çalışmada fakülte hastanemize …
etkileyen ve nadir olarak rastlanan kalıtsal bir hastalıktır. Bu çalışmada fakülte hastanemize …
[HTML][HTML] A Novel Missense Mutation in the EDAR Gene and One Missense Mutation in EDA Gene in the Study of HED Patients in Iran
A Papi, S Khatami, H Galehdari… - Iranian Journal of …, 2021 - brieflands.com
: Hypohidrotic ectodermal dysplasia (HED) is the most common type of ectodermal dysplasia
that is the result of faulty ectodermal development leading to such ectodermal defects as …
that is the result of faulty ectodermal development leading to such ectodermal defects as …
A recurrent missense mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia in two consanguineous Kashmiri families
Background: Hypohidrotic ectodermal dysplasia (HED) is a rare congenital disorder arising
from the abnormal development of ectoderm derived structures, including skin, hair, nails …
from the abnormal development of ectoderm derived structures, including skin, hair, nails …
A recurrent missense mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia in two consanguineous Kashmiri families
Background Hypohidrotic ectodermal dysplasia (HED) is a rare congenital disorder arising
from the abnormal development of ectoderm derived structures, including skin, hair, nails …
from the abnormal development of ectoderm derived structures, including skin, hair, nails …
Central nervous system variations and abnormalities in anhidrotic ectodermal dysplasia (AED): neuroimaging findings
Background Anhidrotic ectodermal dysplasia (AED) is a rare, mostly X-linked recessive
genodermatosis, characterized by congenital defects of ectodermal derivative structures as …
genodermatosis, characterized by congenital defects of ectodermal derivative structures as …
Whole-exome Sequencing Identified a Novel Hemizygous Missense Variant in the EDA Gene in an Iranian Patient Causing Hypohidrotic Ectodermal Dysplasia
S Dorgaleleh, M Oladnabi - International Journal of Pediatrics, 2022 - ijp.mums.ac.ir
Ectodermal dysplasia (ED) is a congenital heterogenic disorder caused by the defect in the
ectoderm and its derivatives. This complex disorder has different subtypes, the most …
ectoderm and its derivatives. This complex disorder has different subtypes, the most …
[HTML][HTML] Comportamiento de las displasias ectodérmicas en la provincia de Holguín. Cuidados de la piel y protección social
EE Santana Hernández - Correo Científico Médico, 2019 - scielo.sld.cu
Introducción: las displasias ectodérmicas son enfermedades genéticas caracterizadas por
alteraciones de estructuras derivadas del ectodermo. El gobierno cubano, conjuntamente …
alteraciones de estructuras derivadas del ectodermo. El gobierno cubano, conjuntamente …
Hipohidrotik ektodermal displaziya sindromlu uşaqlarda tənəffüs sistemi üzvlərinin zədələnməsi
MZ Sh, GF Agayeva, Aİ Abbasaliyeva… - Azerbaijan Journal of …, 2023 - jpp.az
Hypohidrotic ectodermal dysplasia syndrome is a genetic disorder that impacts the tissues
and organs derived from the ectoderm, with a notable effect on the epidermis of the skin …
and organs derived from the ectoderm, with a notable effect on the epidermis of the skin …
[HTML][HTML] Comportamiento de las displasias ectodérmicas en la provincia de Holguín. Cuidados de la piel y protección social
EES Hernández - Correo Científico Médico de Holguín, 2019 - medigraphic.com
Introducción: las displasias ectodérmicas son enfermedades genéticas caracterizadas por
alteraciones de estructuras derivadas del ectodermo. El gobierno cubano, conjuntamente …
alteraciones de estructuras derivadas del ectodermo. El gobierno cubano, conjuntamente …