Results 31 to 40 of about 6,674 (213)
Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity [PDF]
, 2017 Heritable forms of ichthyoses, also referred to as generalized Mendelian disorders of cornification, are phenotypically a highly heterogeneous group of conditions caused by mutations in a number of genes playing a role in keratinocyte differentiation ...
Abiri, Maryam +12 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
doaj +1 more source
Clinical Case Reports, 2021 A novel splice site mutation in the GTPBP2 gene was identified by whole‐exome sequencing in two siblings with microcephaly and progressive generalized muscular atrophy associated with hypotrichosis.
Isa Abdi Rad +2 more
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Epistatic interactions between at least three loci determine the “rat-tail” phenotype in cattle [PDF]
, 2016 BACKGROUND: The “rat-tail” syndrome (RTS) is an inherited hypotrichosis in cattle, which is exclusively expressed in diluted coloured hair. The affected animals also suffer from disturbed thermoregulation, which impairs their health and growth ...
Christa Kuehn +3 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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Significant Hair Regrowth With 5% Topical Minoxidil in a Child With Marie Unna Hereditary Hypotrichosis Caused by a Recurrent HRURF Variant [PDF]
J Cosmet DermatolJournal of Cosmetic Dermatology, Volume 24, Issue 8, August 2025.
Cui C, Chen X, Zhang Y, Ma J, Wei A.
europepmc +2 more sources
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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Two Cases of Hallermann-Streiff Syndrome with Retinal Abnormalities [PDF]
, 2018 Hallermann-Streiff syndrome is a rare congenital disorder that is characterized by malformations of the craniofacial region with ocular abnormalities. Some ophthalmic signs can be observed in early age and some in adulthood.
Bausz Mária +4 more
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Acta dermato-venereologica, 1987 A case of naevoid hypotrichosis affecting two symmetrical areas in the parietal regions is described.
J H, Barth, R P, Dawber
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Marie-Unna Hereditary Hypotrichosis
International Journal of Trichology, 2014 Marie-Unna type of hereditary hypotrichosis is a rare autosomal dominant disorder that has a distinctive type of hair loss pattern that varies with child's age. It is characterized by sparse or absent hair at birth with regrowth of coarse, wiry twisted hair from childhood, followed by progressive loss on approaching puberty.
Srinivas, Sahana M, Hiremagalore, Ravi
openaire +3 more sources