Hair shaft structures in EDAR induced ectodermal dysplasia
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چکیده
منابع مشابه
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Caused by a Novel Mutation in EDAR Gene
Backgrounds: Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder, distinguished by hypotrichosis, hypohidrosis, and hypodontia. HDE can be inherited in X-linked recessive manner as a result of mutations in the ectodysplasin A (EDA) gene as well as autosomal dominant and autosomal recessive manners both of them caused by mutations in EDA receptor (EDAR) and EDAR-associated death d...
متن کاملA Novel Splicesite Mutation in the EDAR Gene Causes Severe Autosomal Recessive Hypohydrotic (Anhidrotic) Ectodermal Dysplasia in an Iranian Family
Hypohidrotic ectodermal dysplasia (HED) is a rare congenital disorder arising from deficient development of ectoderm-derived structures including skin, nails, glands and teeth. The phenotype of HED is associated with mutation in EDA, EDAR, EDARADD and NEMO genes, all of them disruptingNF-κB signaling cascade necessary for initiation, formation and differentiation in the embryo and adult. ...
متن کاملMutations in EDA and EDAR Genes in a Large Mexican Hispanic Cohort with Hypohidrotic Ectodermal Dysplasia
474 Ann Dermatol Received July 7, 2014, Revised September 12, 2014, Accepted for publication September 19, 2014 Corresponding author: Keith A Choate, Departments of Dermatology, Genetics, and Pathology, Yale University School of Medicine, 333 Cedar Street, New Haven, CT 06510, USA. Tel: 1-203-785-3912, Fax: 1-888-480-780, E-mail: [email protected] This is an Open Access article distributed ...
متن کاملEight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients
Hypohidrotic ectodermal dysplasia (HED) is characterized by abnormal development of the teeth, hair, and sweat glands. Ectodysplasin A (EDA), Ectodysplasin A receptor (EDAR), and EDAR-associated death domain (EDARADD) are candidate genes for HED, but the relationship between WNT10A and HED has not yet been validated. In this study, we included patients who presented at least two of the three ec...
متن کاملCongenital Ectodermal Dysplasia
Two cases of phenotypically similar ectodermal dysplasia characterised by reduction of hair, diminished sweat pores, missing teeth and somewhat cracked and abnormal skin were studied to understand the genetic basis of this disorder with the help of pedigrees. The mode of inheritance in one case was suggested to be x-linked where as in the other case it was autosomal recessive. (JPMA 35 225, 1985).
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ژورنال
عنوان ژورنال: BMC Medical Genetics
سال: 2015
ISSN: 1471-2350
DOI: 10.1186/s12881-015-0227-5