Results 81 to 90 of about 5,635 (205)

Further delineation of the hypotrichosis-deafness syndrome. [PDF]

, 2005
Contains fulltext : 47825.pdf (Publisher’s version ) (Closed access)We recently delineated a novel disorder characterized by hypotrichosis, nail dystrophy and sensorineural deafness and caused by a missense mutation in GJB2 (connexin26).
Steijlen, P.M., Steensel, M.A.M. van, Geel, M. van   +2 more
core  

Ectodermal Dysplasia: Report and Analysis of Eleven South Indian Patients with Review of Literature

Journal of Indian Academy of Oral Medicine and Radiology, 2010
Ectodermal dysplasia represents a rare syndrome affecting two or more ectodermally derived structures. The condition is thought to occur in approximately 1 in every 100,000 live births.
Renuka Ammanagi, Vaishali Keluskar, Anjana Bagewadi   +2 more
doaj  

From Eye Care to Hair Growth: Bimatoprost

Pharmaceuticals
Background: Bimatoprost has emerged as a significant medication in the field of medicine over the past several decades, with diverse applications in ophthalmology, dermatology, and beyond.
Marco Zeppieri, Caterina Gagliano, Leopoldo Spadea, Carlo Salati, Ekele Caleb Chukwuyem, Ehimare Samuel Enaholo, Fabiana D’Esposito, Mutali Musa   +7 more
doaj   +1 more source

New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report

, 2017
Background CDH3 on 16q22.1 is responsible for two rare autosomal recessive disorders with hypotrichosis and progressive macular dystrophy: Hypotrichosis with Juvenile Macular Dystrophy and Ectodermal ...
Blanco-Kelly, Fiona, Lopez-Martinez, Miguel, Ayuso, Carmen, Iker Sanchez-Navarro, Rodrigues-Jacy da Silva, Luciana, Rosa Riveiro-Alvarez, Sanchez-Navarro, Iker, Marta Corton, Riveiro-Alvarez, Rosa, Fiona Blanco-Kelly, Carmen Ayuso, Luciana Rodrigues-Jacy da Silva, Miguel Angel Lopez-Martinez, Corton, Marta   +13 more
core   +1 more source

Hypotrichosis, lymphedema of the legs and acral telangiectasias--new syndrome?

, 2001
Item does not contain fulltextWe describe a girl of Turkish descent suffering from a peculiar combination of symptoms. The presenting complaint was bilateral lymphedema of the legs; additional symptoms include hypotrichosis, telangiectasias and angiomata
Steijlen, P.M., Glade, C.P., Steensel, M.A.M. van   +2 more
core  

Congenital Ciliary Hypotrichosis [PDF]

Ophthalmologica, 2010
R P, SARDA, H, CHARAN, P N, NAGPAUL
openaire   +2 more sources

A novel MBTPS2 missense variant identifying keratosis follicularis spinulosa decalvans in a case of neonatal erythroderma

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 3, Page 392-396, March 2026.
Edwin Cuperus, Michel van Geel, Virginie JM Verhoeven, Suzanne M Koudijs, Gerharda H Boerman, Angela M Tjiam, N Margreth van der Lugt, Suzanne GMA Pasmans   +7 more
wiley   +1 more source

Hereditary hypotrichosis simplex of the scalp: A case report with 10 affected members in a family [PDF]

, 1970
Hereditary hypotrichosis simplex of the scalp is an autosomal dominant disorder, characterized by sparse or absent scalp hairs without structural defects, in the absence of other ectodermal or systemic abnormalities. Hairs are usually normal at birth but
Babu, Anuradha K., Bai S, Jyoti
core   +1 more source

Christ — Siemens — Touraine syndrome (ectodermal anhydrone dysplasia) [PDF]

Саратовский научно-медицинский журнал, 2011
The article is concerned with observation of a child of 3,5 with hereditary Krista — Seimens — Turena syndrome.
Kuznetsova М.А., Karalskaya J.J.
doaj  

A unique case of vision loss in a patient with hypotrichosis and juvenile macular dystrophy and primary ciliary dyskinesia

American Journal of Ophthalmology Case Reports, 2019
Purpose: We describe a unique case of CDH3-related hypotrichosis with juvenile macular dystrophy (HJMD) and DNAH5-related primary ciliary dyskinesia (PCD) with progressive vision loss in a young Indian female without positive family history.
Kenneth C. Fan, Nimesh A. Patel, Nicolas A. Yannuzzi, Supalert Prakhunhungsit, Catherin I. Negron, Elisa Basora, Andrew A. Colin, Mustafa Tekin, Audina M. Berrocal   +8 more
doaj   +1 more source