Results 31 to 40 of about 5,711 (254)

A novel GTPBP2 splicing mutation in two siblings affected with microcephaly, generalized muscular atrophy, and hypotrichosis

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, Ali Vahabi, Elinaz Akbariazar   +2 more
doaj   +1 more source

Hypotrichosis with juvenile macular dystrophy [PDF]

International Journal of Trichology, 2018
Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disease, characterized by hypotrichosis and progressive macular degeneration, leading to blindness in the first three decades of life. It is associated with mutations in the cadherin 3 gene, resulting in the abnormal expression of P-cadherin.
Almeida, FT, Carneiro-Freitas, R, Caldas, R, Vieira, AP   +3 more
openaire   +4 more sources

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, Irene M. Häfliger, Fabienne Leuthard, Brant Schumaker, Lynn Steadman, Brian Murphy, Cord Drögemüller, Tosso Leeb   +7 more
doaj   +1 more source

A Novel Mutation in the Upstream Open Reading Frame of the CDKN1B Gene Causes a MEN4 Phenotype [PDF]

, 2013
PubMed ID: 23555276This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are ...
A Borriello, A Falchetti, A Mehta, A Ozawa, A Wiestner, A Yoon, Alessandro Quattrone, BG Luukkonen, C Le Sage, Carla Scaroni, CC Spevak, CJ Sherr, CJ Sherr, D Malanga, Daniela Regazzo, Denis Ciato, DR Morris, Elena Pardi, Filomena Cetani, Francesca Boaretto, Franco Mantero, G Beffagna, G Johannes, G Occhi, GC Scheper, Giampaolo Trivellin, Gianluca Occhi, Giuseppe Opocher, IM Chu, J Costa-Guda, J Slingerland, K Wethmar, L Liu, L Quintanilla-Martinez, M Georgitsi, M Kozak, M Kozak, M Kullmann, M Matsui, Marshall S. Horwitz, MD Larrea, ML Crowe, ML Fero, Márta Korbonits, Natalia S. Pellegata, NS Pellegata, P Chomczynski, RV Thakker, S Igreja, S Molatore, S Ye, Sara Bobisse, SE Calvo, Sergio Ferasin, SI Reed, SK Agarwal, U Göpfert, Viktoryia Sidarovich, W Zhou, WK Miskimins, Y Wen   +60 more
core   +6 more sources

Hypotrichosis with keratosis pilaris: a case report and review of literature

Al-Azhar Assiut Medical Journal, 2017
Hypotrichosis or sparse hair is a relatively common feature of several hereditary syndromes. Hypotrichosis with keratosis pilaris is a very rare inborn skin disorder of unknown etiology.
Ayman M Mahran, Aya Y Badran, Asmaa M Ahmad, Mahmoud R Hussein   +3 more
doaj   +1 more source

Coexistence of T-Cell Lymphoblastic Lymphoma and Ichthyosis Vulgaris: A Case Report. [PDF]

Case Rep Oncol Med
Ichthyosis vulgaris (IV) is an inherited disorder characterized by the scaling of the skin. It is caused by mutations in the filaggrin gene. IV is a reactive skin manifestation that may be associated with malignant hematological disease. Its association with neoplastic diseases such as Hodgkin lymphoma, anaplastic large‐cell lymphoma, and mycosis ...
Kamış ŞÇ, Yağcı B.
europepmc   +2 more sources

Chromosomal assignment of the ovine hairless (hr) gene by fluorescence in situ hybridization. [PDF]

, 2008
Congenital hypotrichosis in mammalian species consists of partial or complete absence of a hair coat at birth. Affected individuals having a partial hair coat at birth may loose it subsequently.The aim of this paper was to physically map the ovine hr
Budelli E, Caroli A, Castiglioni B, FINOCCHIARO, Raffaella, Pagnacco G., PORTOLANO, Baldassare, Van Kaam JBCHM   +6 more
core   +1 more source

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, Venkateswarlu Meduri, Lakshmi Kavitha Nadendla, Namratha Shetty   +3 more
doaj   +1 more source

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
doaj   +1 more source

Effect of hairless gene polymorphism on the breeding values of milk production traits in Valle del Belice sheep [PDF]

, 2013
The aim of this work was to assess the association between the hairless genotypes and estimated breeding values (EBVs) for milk yield (MY), fat (FAT) and protein (PRT) content in Valle del Belice dairy sheep breed.
MASTRANGELO, Salvatore, PORTOLANO, Baldassare, SARDINA, Maria Teresa, TOLONE, Marco   +3 more
core   +1 more source