Results 101 to 110 of about 7,515 (243)

A hypomorphic Egfr allele does not ameliorate the palmoplantar keratoderma caused by SLURP1 deficiency [PDF]

, 2017
Christopher M. Allan, Deanna Tran, Yiping Tu, Patrick J. Heizer, Lorraine C Young, Loren G. Fong, Anne P. Beigneux, Stephen G. Young   +7 more
openalex   +1 more source

Atypical Presentation of Papillon–Lefèvre Syndrome: A Case of Isolated Cutaneous Manifestations Without Dental Involvement

Reports
Background and Clinical Significance: Papillon–Lefèvre syndrome (PLS) is an autosomal recessive genetic skin disorder. Genetic studies have demonstrated that mutations in the Cathepsin-C (CTSC) gene, mapped to chromosome 11q14.1–q14.3, are responsible ...
Mishari Alrubaiaan, Mansour Almutairi, Waleed Alajroush   +2 more
doaj   +1 more source

Zinser–Engmann–Cole syndrome: Two case report

Indian Journal of Paediatric Dermatology, 2019
We report two cases of dyskeratosis congenita. Case 1: An 11-year-old male child presented to us with severe anemia and pancytopenia resulting in cardiac failure, in addition to the classical clinical triad including skin atrophy with mottled ...
Bangaru Hanumaiah, Sathish Shankar, Nanjunda Swamy B Lingaiah   +2 more
doaj   +1 more source

Study of three common mitochondrial mutations in Arab patients with nonsyndromic hearing loss in Khuzestan province, I.R.Iran [PDF]

, 2012
زمینه و هدف : ناشنوایی یکی از شایع ترین اختلالات حسی –عصبی است که در هر 1000 تولد زنده رخ می دهد. بیشتر ناشنوایی ها منشا ژنتیکی داشته و حدود 2-0 موارد ناشنوایی مربوط به جهش در ژن های میتوکندریایی است.
Abolhasani, Marzieh., Ataii, Zohreh., Azadegan-Dehkordi, Fatemeh., Banitalebi, Golandam., Farrokhi, Effat., Hashemzadeh-Chaleshtori, Morteza., Heydari, Soraya., Hoseinipoor, Azam., Montazerzohor, Mostafa., Reissi, Somayeh.   +9 more
core  

Nonsense Mutations in AAGAB Cause Punctate Palmoplantar Keratoderma Type Buschke-Fischer-Brauer [PDF]

, 2012
Kathrin Giehl, Gertrud Eckstein, Sandra M. Pasternack, Silke Praetzel‐Wunder, Thomas Ruzicka, Peter Lichtner, K. Seidl, Mike A. Rogers, Elisabeth Graf, Lutz Langbein, Markus Braun‐Falco, Regina C. Betz, Tim M. Strom   +12 more
openalex   +1 more source

Cutaneous adverse events associated with BRAF and MEK inhibitors: a systematic review and meta-analysis

Frontiers in Pharmacology
AimCutaneous adverse events (CAEs) after treatment with BRAF and MEK inhibitors in patients with melanoma remain incompletely characterized. To determine the association of BRAF and MEK inhibitor treatment with CAEs in patients with melanoma compared ...
Junhui Qian, Jinlong Wan, Qin Yao, Yin Chen, Tao Ling, Yuejuan Zhang, Zhihua Tang   +6 more
doaj   +1 more source

Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome [PDF]

, 2020
INSERM
openalex   +1 more source

CRISPR/Cas9-Mediated Treatment Ameliorates the Phenotype of the Epidermolytic Palmoplantar Keratoderma-like Mouse [PDF]

, 2018
Xiaorui Luan, Xiaoling Chen, Yuexiao Tang, Jinyan Zhang, Xiang Gao, Haiping Ke, Zhaoyu Lin, Xianning Zhang   +7 more
openalex   +1 more source

Issue Information

JEADV Clinical Practice, Volume 4, Issue 5, Page 953-958, December 2025.
wiley   +1 more source

Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma

Frontiers in Oncology
Olmsted syndrome (OS) is a rare congenital skin disorder, typically characterized by symmetrical, severe palmoplantar and periorificial keratoderma, often accompanied by alopecia, and onychodystrophy, with varying degrees of pruritus and pain.
Yangyang Hao, Rong Wu, Xi Chen, Yunjia Shen, Mengwei Chou, Jianqiang Yang   +5 more
doaj   +1 more source