Results 31 to 40 of about 5,635 (205)
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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A Missense Mutation in CDH3, Encoding P-Cadherin, Causes Hypotrichosis with Juvenile Macular Dystrophy [PDF]
, 2002 Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disorder characterized by early hair loss heralding severe degenerative changes of the retinal macula and culminating in blindness during the second to third decade of life ...
Miller, Benjamin +8 more
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Advances of Congenital Alopecia/Hypotrichosis in Genetics Research
罕见病研究, 2023 Congenital alopecia/hypotrichosis is a rare group of monogenic genetic hair disorders characterized by congenital limited or diffuse hair loss and scarcity, without any effective treatment.
CUI Can, CHEN Xi, WEI Aihua
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Ectodermal dysplasia: Report of two cases in a family and literature review
Journal of Family Medicine and Primary Care, 2019 Ectodermal dysplasia (ED) is a inherited genetic disorder with manifestations of abnormalities in more than one ectodermal derivatives like skin, hair, nails, exocrine glands and teeth.
Vani Chappidi +3 more
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Orodental findings in Hallermann-Streiff syndrome
Indian Journal of Dental Research, 2012 Hallermann-Streiff syndrome-also called occulomandibulofacial syndrome, Francois syndrome, oculomandibulodyscephaly with hypotrichosis, Aubry syndrome I, and Ullrich-Fremery-Dohna syndrome-is a rare genetic disorder, which comprisesmultiple congenital ...
Shilpa Parikh, Swati Gupta
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Monilethrix: A rare case diagnosed by dermoscopy
Indian Journal of Paediatric Dermatology, 2020 Monilethrix is a rare genodermatosis characterized by hair shaft dysplasia, which is responsible for hypotrichosis. We present the case of a 2-year-old female, with involvement of the scalp, eyebrows, and eyelashes, in whom dermoscopy enabled a rapid ...
Aditya Rajendra Holani +3 more
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Dental Management of Hypohydrotic Ectodermal Dysplasia: A Case Report [PDF]
Journal of Mashhad Dental School, 2020 Introduction: Ectodermal dysplasia is a genetic rare disease, consisting of a group of abnormalities which are the results of the abnormal development of two or more embryonic ectoderm derivatives, such as the skin, hair, nail, sweat gland, tooth, and ...
Koorosh teymoornezhad +2 more
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Hypohydrotic ectodermal dysplasia: A rare case series
Journal of Pediatric Critical Care, 2018 Hypohydrotic ectodermal dysplasia (HED) is characterized by classical triad of Hypotrichosis (sparseness of scalp and body hair), anhidrosis/hypohidrosis (absence or reduction of sweat glands), and hypodontia/ anodontia (congenital absence of teeth). The
Manisha Goyal +3 more
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