HYPOHIDROTIC ECTODERMAL DYSPLASIA

Manas Bajpai; Nilesh Pardhe

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HYPOHIDROTIC ECTODERMAL DYSPLASIA

机译：羟基的表皮异常

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A 23 year old lady reported with the chief complain of missing teeth. She had been diagnosed much earlier by the physicians for Ectodermal dysplasia. General examination revealed sparse hair, absence of eyelashes and eyebrows with frontal bossing and averted lips. The skin was dry and wrinkled. She had numerous eczematous lesions in lower extremities. There was a history of reduced sweating and heat intolerance

机译：一位23岁的女士报告说，酋长抱怨牙齿缺失。她已经被医生诊断为皮肤外胚层发育异常。全身检查发现，头发稀疏，没有睫毛和眉毛，额部凸起且嘴唇平移。皮肤干燥和皱纹。她在下肢有许多湿疹性病变。有减少出汗和不耐高温的历史

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《Journal of Ayub Medical College》 |2015年第4期|共1页
作者
Manas Bajpai; Nilesh Pardhe;
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中图分类预防医学、卫生学;
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1. First report of X-linked hypohidrotic ectodermal dysplasia with a hemizygous c.1142G C in the EDA gene: variant of uncertain significance or new pathogenic variant? [J] . Tumminello Mario, Gangemi Antonella, Matina Federico, Italian journal of pediatrics . 2021,第1期

机译：第一个报告X链接X-LINKED Hypohidcoric Ectoderia，具有嗜血态C.1142G＆GT; C在EDA基因中：不确定意义或新致病变异的变体？
2. Hypohidrotic ectodermal dysplasia [J] . Piotr Jarliński, Jolanta W?g?owska, Agnieszka Odziomek, Przeglad Dermatologiczny . 2020,第6期

机译：hypohidcoric entodermal dysplasia.
3. A Hypohidrotic Ectodermal Dysplasia Arising From a New Mutation in a Yorkshire Terrier Dog [J] . Moura Enio, Weber Saulo Henrique, Engracia Filho Jair Rodini, Topics in companion animal medicine . 2020,第1期

机译：从约克夏犬狗的新突变引起的一个水性异位异位增生症
4. Ectodermal Dysplasia [C] . Vassa Khema Katthika, Elza Ibrahim Auerkari International Dentistry Scientific Meeting . 2018

机译：外胚层发育不良
5. Phenotype Characterization And Candidate Genotyping Of Hypodontia In Ectodermal Dysplasia (ED) And Non-Syndromic Groups [D] . Olmsted, Matthew John 2011

机译：外胚层发育不良（ED）和非综合征人群的齿龈发育不足的表型表征和候选基因分型
6. No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia [O] . Laura Körber, Holm Schneider, Nicole Fleischer, 2021

机译：没有证据表明优先X-染色体失活作为血管瘘中发散表型的主要原因具有X型低致抗性异位异位异常增生
7. First Report of X-Linked Hypohidrotic Ectodermal Dysplasia with a Hemizygous c.1142G C in the EDA Gene: Variant of Uncertain Significance or New Pathogenic Variant? [O] . Mario Tumminello, Antonella Gangemi, Federico Matina, 2021

机译：第一次报告X-Libided Hypohidcoric EctoDermal dysodplasia，在EDA基因中具有嗜血腺嘧啶C.1142G> C：意义的变异或新的致病变异性？

HYPOHIDROTIC ECTODERMAL DYSPLASIA

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