X-Linked Hypohidrotic Ectodermal Dysplasia in Crossbred Beef Cattle Due to a Large Deletion in EDA
Animals, 2021 X-linked hypohidrotic ectodermal dysplasia-1 (ECTD1) in people results in a spectrum of abnormalities, most importantly hypotrichosis, anodontia/oligodontia, and absent or defective ectodermally derived glands. Five Red Angus-Simmental calves born over a
Donal O’Toole +7 more
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Clinical and genetic aspects of a child with monilethrix and visual rehabilitation
Indian Journal of Ophthalmology. Case Reports, 2022 Monilethrix is a rare genodermatosis, presented to us with predominant ocular manifestations. The affected proband was typically characterized by severe photophobia, defective vision, and hypotrichosis with brittle and stubby hair. Here, we report a rare
Monisha Mohan +4 more
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Hereditary Hypohidrotic Ectodermal Dysplasia: Report of a Rare Case [PDF]
Journal of Clinical and Diagnostic Research, 2013 Hereditary Hypohidrotic Ectodermal Dysplasia (HHED), an X-linked, recessive, Mendelian character, is seen usually in males and it is inherited through female carriers.
Geetha Paramkusam +3 more
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Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families
Molecular Genetics & Genomic Medicine, 2022 Background Monilethrix is a rare hereditary hair loss disorder characterized by hair fragility and beaded hair shaft alterations. Monilethrix is classically inherited in an autosomal dominant (AD) fashion caused by variants in the hair keratin genes ...
Cheng Zhou +10 more
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Treatment of hypotrichosis simplex of the scalp with the combination of botanic extracts and minoxidil: a case report [PDF]
Frontiers in GeneticsDingquan Yang
exaly +2 more sources
Christ siemens touraine syndrome: A rare case report
Journal of Indian Society of Pedodontics and Preventive Dentistry, 2016 Christ-Siemens-Touraine (CST) is a rare hereditary disorder of X-linked recessive trait, characterized by abnormal development of two or more structures or tissues of ectodermal origin.
N Retnakumari +2 more
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Minoxidil a Youth Elixir for Eyebrow Hypotrichosis [PDF]
Journal of Clinical and Diagnostic Research, 2020 Introduction: Eyebrows being prominent feature of the face contributes majorily for aesthetics. Eyebrow hypotrichosis means the reduction or absence of the eyebrow hair. This is associated with negative self-esteem. Minoxidil has been found to act at the
Varsha Gajbhiye, Yeshwant Lamture
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Prosthodontic management of anhidrotic ectodermal dysplasia
Indian Journal of Dental Research, 2011 Ectodermal dysplasia is characterized by the absence or defects of two or more ectodermally derived structures. Anodontia or hypodontia is the most striking dental manifestation. In severe hypodontia, there is lack of alveolar development with consequent
Shilpy Gupta, Parimala Tyagi
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Hypotrichosis congenita (KRT71 mutation) in Hereford cattle in Uruguay [PDF]
Pesquisa Veterinária Brasileira, 2023 : Hypotrichosis congenita is a significant disease in Hereford cattle in Uruguay and has been reported worldwide. However, the causal mutation KRT71 has only been recently identified.
Agustín Romero-Benavente +2 more
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Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice.
PLoS Genetics, 2020 Skin lesions, cataracts, and congenital anomalies have been frequently associated with inherited deficiencies in enzymes that synthesize cholesterol. Lanosterol synthase (LSS) converts (S)-2,3-epoxysqualene to lanosterol in the cholesterol biosynthesis ...
Yoichi Wada +18 more
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