نتایج جستجو برای: hypohidrotic ectodermal dysplasia

تعداد نتایج: 30775  

2015
Kumkum Sarkar Manab Kumar Ghosh Somenath Sarkar Bibhuti Saha

Here we report two cases of anhidrotic ectodermal dysplasia in a family presented to us with intermittent fever, developmental delay, frontal bossing, hypohydrosis, sparse hair and oligodontia. Ectodermal dysplasias are a large hereditary group of disorders which are usually manifested as X-linked recessive hypohidrotic ectodermal dysplasia (HED) and has a full expression in males, whereas fema...

Journal: :Journal of medical genetics 1989
J P Fryns K Chrzanowska H Van den Berghe

In this report we present the unique combination of hypohidrotic ectodermal dysplasia, primary hypothyroidism, and agenesis of the corpus callosum in a two year old, severely mentally retarded boy.

Journal: :Archives of medical research 2006
Izzet Yavuz Zelal Baskan Refik Ulku Turksel Coruh Dulgergil Osman Dari Aydin Ece Yasemin Yavuz Kadriye Oya Dari

The aim of this article is to review possible cranio-maxillofacial deformative consequences associated with hypohidrotic ectodermal dysplasia and embryonic malformations, which include dental ageneses, and describe the oral habilitation. Hypohidrotic ectodermal dysplasia patients had a clinical examination and underwent radiographic and Steiner's analyses and a respiratory capability test befor...

Journal: :Case Reports in Ophthalmological Medicine 2015

Journal: :International Journal of Clinical Pediatric Dentistry 2010

Journal: :Journal of Genetic Syndromes & Gene Therapy 2014

Journal: :American journal of medical genetics. Part A 2013
Kyle B Jones Alice F Goodwin Maya Landan Kerstin Seidel Dong-Kha Tran Jacob Hogue Miquella Chavez Mary Fete Wenli Yu Tarek Hussein Ramsey Johnson Kenneth Huttner Andrew H Jheon Ophir D Klein

Hypohidrotic ectodermal dysplasia (HED) is the most common type of ectodermal dysplasia (ED), which encompasses a large group of syndromes that share several phenotypic features such as missing or malformed ectodermal structures, including skin, hair, sweat glands, and teeth. X-linked hypohidrotic ectodermal dysplasia (XL-HED) is associated with mutations in ectodysplasin (EDA1). Hypohidrosis d...

2014
Alice F Goodwin Jacinda R Larson Kyle B Jones Denise K Liberton Maya Landan Zhifeng Wang Anne Boekelheide Margaret Langham Vagan Mushegyan Snehlata Oberoi Rosalie Brao Timothy Wen Ramsey Johnson Kenneth Huttner Dorothy K Grange Richard A Spritz Benedikt Hallgrímsson Andrew H Jheon Ophir D Klein

Hypohidrotic ectodermal dysplasia (HED) is the most prevalent type of ectodermal dysplasia (ED). ED is an umbrella term for a group of syndromes characterized by missing or malformed ectodermal structures, including skin, hair, sweat glands, and teeth. The X-linked recessive (XL), autosomal recessive (AR), and autosomal dominant (AD) types of HED are caused by mutations in the genes encoding ec...

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