Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications. [PDF]
, 1998 Betsy Ferguson +5 more
openalex +1 more source
Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome [PDF]
, 2020 Inserm
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Despite the hair failing, nails thrive…
Indian Journal of Paediatric Dermatology, 2017 Ectodermal dysplasias are defined as a group of congenital, nonprogressive, developmental syndromes with primary disorders in at least two ectoderm-derived structures namely eccrine glands, hair, nail and teeth.
Samipa Samir Mukherjee +1 more
doaj +1 more source
Anhidrotic ectodermal dysplasia—A case series in a medical center in southern Taiwan
Dermatologica Sinica, 2012 Background: Anhidrotic ectodermal dysplasia (EDA) is a rare genodermatosis that causes developmental defects in ectoderm-derived structures. The clinical triad consists of hypodontia, hypotrichosis, and anhidrosis with other additional symptoms.
Kuei-Chung Liu +2 more
doaj +1 more source
Clinical aspects of X-linked hypohidrotic ectodermal dysplasia. [PDF]
, 1987 Angus Clarke +3 more
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The pathophysiology of meibomian gland dysfunction related ocular surface diseases and the molecular mechanism [PDF]
, 2016 第一部分：睑板腺功能障碍诱导的小鼠干眼动物模型的建立 目的：睑板腺功能障碍（MGD）是引起蒸发过强型干眼最常见的病因，但是MGD引起的眼表面病变的病理生理过程目前还知之甚少。本研究的主要目的是建立蒸发过强型干眼的动物模型，并观察该类型干眼的眼表病理变化过程。 方法：用裂隙灯显微镜观察外异蛋白基因（EctodysplasinA，EDA)突变鼠（Tabby鼠）的眼表病变过程，用荧光素钠染色方法检测Tabby鼠的角膜上皮缺损状况，用酚红棉线检测小鼠的水性泪液分泌，对角膜和眼睑进行H&E染色和油红染色 ...
李三明
core
Rare Pediatric Genetic Case Report of X-linked Hypohidrotic Ectodermal Dysplasia Type 1. [PDF]
Cureus, 2023 Zaki H.
europepmc +1 more source
A Rare Case of Hypohidrotic Ectodermal Dysplasia
Journal of Clinical and Biomedical SciencesA wide range of hereditary diseases affecting two or more ectodermally derived tissues together are referred to as ectodermal dysplasias (EDs). The most frequently impacted ectodermal derivatives are the teeth, nails, sweat glands, and hair.
Hariharasubramanian M +3 more
doaj +1 more source
Hypohidrotic ectodermal dysplasia and juxtaclavicular beaded lines. [PDF]
JAAD Case Rep, 2022 Dubois A +4 more
europepmc +1 more source
A Missense Mutation in the Collagen Triple Helix of EDA Is Associated with X-Linked Recessive Hypohidrotic Ectodermal Dysplasia in Fleckvieh Cattle. [PDF]
Genes (Basel), 2023 Reinartz S +8 more
europepmc +1 more source