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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… 
National Institutes of Health

Related topics

Related topics

14 relations
Anhydrotic Ectodermal DysplasiasChrist-Siemens-Touraine syndromeECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANTECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE

Papers overview

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Highly Cited
2009
Highly Cited
2009
A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan.
Review
2008
Review
2008
Infantile Malignant, Autosomal Recessive Osteopetrosis: The Rich and The Poor
Human recessive osteopetrosis (ARO) represents a group of diseases in which, due to a defect in osteoclasts, bone resorption is… 
Highly Cited
2007
Highly Cited
2007
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)
Autosomal recessive severe congenital neutropenia (SCN) constitutes a primary immunodeficiency syndrome associated with increased… 
Highly Cited
2003
Highly Cited
2003
Tyrosinase processing and intracellular trafficking is disrupted in mouse primary melanocytes carrying the underwhite (uw) mutation. A model for oculocutaneous albinism (OCA) type 4
Oculocutaneous albinism (OCA) type 4 is a newly identified human autosomal recessive hypopigmentary disorder that disrupts… 
Highly Cited
1999
Highly Cited
1999
Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1
We report a 2‐year‐old boy with an unusual autosomal recessively inherited skin disease comprising trauma‐induced skin fragility… 
Highly Cited
1998
Highly Cited
1998
Abnormal Regulation of Interferon-γ, Interleukin-12, and Tumor Necrosis Factor-α in Human Interferon-γ Receptor 1 Deficiency
Mycobacterial infections are critically controlled by interferon-gamma (IFN-gamma) and the cellular responses it elaborates, as… 
Highly Cited
1997
Highly Cited
1997
A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.
Trichothiodystrophy (TTD) is a rare, autosomal recessive disorder characterized by sulfur-deficient brittle hair and nails… 
Highly Cited
1993
Highly Cited
1993
Cartilage-hair hypoplasia — clinical manifestations in 108 Finnish patients
Cartilage-hair hypoplasia is an autosomal recessive metaphyseal chondrodysplasia with short-limbed short stature, hypoplastic… 
Highly Cited
1982
Highly Cited
1982
Tumour promotion by TCDD in skin of HRS/J hairless mice
2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD) serves as the prototype for a group of environmental toxicants, the halogenated… 
Highly Cited
1982
Highly Cited
1982
X-linked recessive bulbospinal neuronopathy: a report of ten cases.
A form of adult onset 'bulbospinal muscular atrophy' of X-linked recessive inheritance is described in 10 patients from eight… 
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