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Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive

Known as: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive [Disease/Finding], Anhidridic Ectodermal Dysplasia, Autosomal Recessive, Autosomal Recessive Anhydrotic Ectodermal Dysplasia 
A rare autosomal recessive disorder characterized by developmental abnormalities of the skin, sweat glands, hair and nails. Patients have a reduced… Expand
National Institutes of Health

Papers overview

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Highly Cited
2011
Highly Cited
2011
BACKGROUND Chronic mucocutaneous candidiasis (CMC) is characterized by susceptibility to candida infection of skin, nails, and… Expand
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Review
2009
Review
2009
  • Marja L Mikkola
  • American journal of medical genetics. Part A
  • 2009
  • Corpus ID: 35889004
Hypohidrotic (anhidrotic) ectodermal dysplasia (HED) is a congenital syndrome characterized by sparse hair, oligodontia, and… Expand
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Highly Cited
2009
Highly Cited
2009
Autosomal recessive cutis laxa (ARCL) describes a group of syndromal disorders that are often associated with a progeroid… Expand
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Highly Cited
2007
Highly Cited
2007
Autosomal recessive severe congenital neutropenia (SCN) constitutes a primary immunodeficiency syndrome associated with increased… Expand
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Highly Cited
2007
Highly Cited
2007
Odonto-onycho-dermal dysplasia is a rare autosomal recessive syndrome in which the presenting phenotype is dry hair, severe… Expand
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Highly Cited
2003
Highly Cited
2003
Tight junctions (TJs) create ion-selective paracellular permeability barriers between extracellular compartments. In the organ of… Expand
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Highly Cited
2003
Highly Cited
2003
OBJECTIVES The goal of this study was to analyze the genetic disorder of a family with cardiomyopathy, skin disorder, and woolly… Expand
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Highly Cited
2000
Highly Cited
2000
BACKGROUND Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an autosomal dominant heart muscle disorder that causes… Expand
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Highly Cited
1999
Highly Cited
1999
X-linked hypohidrotic ectodermal dysplasia results in abnormal morphogenesis of teeth, hair and eccrine sweat glands. The gene… Expand
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Highly Cited
1997
Highly Cited
1997
Non-syndromic neurosensory autosomal recessive deafness (NSRD) is the most common form of genetic hearing loss. Previous studies… Expand
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