Results 131 to 140 of about 1,144,906 (160)

Clouston syndrome: An ectodermal dysplasia without significant dental findings

American Journal of Medical Genetics, Part A, 1996
The ectodermal dysplasias are a heterogeneous group of conditions primarily affecting the hair, teeth, nails, and skin, and are classified according to the tissue(s) affected. The classification categories are: (1) abnormalities of hair, (2) dental defects, (3) abnormalities of nail morphology, and (4) dyshidrosis.
Georgianne L Arnold
exaly   +3 more sources

Novel mutations inGJB6andGJB2in Clouston syndrome

Clinical and Experimental Dermatology, 2015
Clouston syndrome (CS; also termed hidrotic ectodermal dysplasia) is a rare autosomal dominant genetic skin disorder, characterized by alopecia, nail dystrophy, and palmoplantar hyperkeratosis. Mutations in the GJB6 gene, which encodes the gap junction protein connexin 30, have been shown to cause this disorder.
Yao‐Shun Liu, K. Guo, Jinrong Li, Yan Liu, Wei‐Qian Zeng, Songmei Geng   +5 more
openalex   +3 more sources

Refined localization of the gene for Clouston syndrome (hidrotic ectodermal dysplasia) in a large French family

British Journal of Dermatology, 2000
Hidrotic ectodermal dysplasia (HED) or Clouston syndrome is a rare autosomal dominant disorder characterized by nail dystrophy, alopecia and palmoplantar hyperkeratosis, which maps to chromosome 13q11-q12.1. We confirmed linkage of HED to this region in a large French family.
Guy A. Rouleau, G A Rouleau, C Blanchet-Bardon   +2 more
exaly   +4 more sources

Clouston Syndrome

Consultant, 2020
Alexander K. C. Leung, Kin Fon Leong, Joseph M. Lam   +2 more
openalex   +2 more sources

A novel variant in the GJB6 gene in a large Chinese family with a unique phenotype of Clouston syndrome

Frontiers of Medicine, 2023
Mengyun Chen, Hequn Huang
exaly   +2 more sources

Clouston Syndrome.

Skinmed, 2022
Caroline Ahmed, Beatriz Moritz Trope, Gustavo Amorim, Marcia Ribeiro, Márcia Ramos‐e‐Silva   +4 more
openalex   +2 more sources

Clouston syndrome : a rare form of ectodermal dysplasia

, 2022
Marie‐Anne Morren, Mathieu Leuenberger
openalex   +2 more sources

GJB6, of which mutations underlie Clouston syndrome, is a potential direct target gene of p63

, 2012
Background: Clouston syndrome is a rare autosomal dominant condition characterized by hypotrichosis, nail dystrophy, and occasionally palmoplantar keratoderma. The disease is caused by mutations in GJB6 gene, which encodes a gap junction protein connexin
Atsushi Fujimoto, Mazen Kurban, Motonobu Nakamura, Muhammad Farooq, Hiroki Fujikawa, Abdul‐Ghani Kibbi, Masaaki Ito, Maurice J. Dahdah, Mona T. Matta, Hassan Diab, Yutaka Shimomura   +10 more
openalex   +2 more sources

Clouston syndrome: an ultrastructural study

Clinical Genetics, 2008
A previously undescribed French-Canadian family affected with Clouston Syndrome (Hypohidrotic Ectodermal Dysplasia) is described. Ultrastructural study of the hair shows disorganization of the hair fibrils with loss of the cuticular cortex. The SEM findings are consistent with the model, suggesting a biochemical defect in the keratin of the ...
V, Escobar, L I, Goldblatt, D, Bixler, D, Weaver   +3 more
openaire   +2 more sources

Pincer nail deformity as the main manifestation of Clouston syndrome

British Journal of Dermatology, 2015
Yi-Hsuan Hu, Y.‐C. Lin, Wuh‐Liang Hwu, Y.‐M. Lee   +3 more
openalex   +3 more sources