Cargando…

Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy

Detalles Bibliográficos
Autores principales:	Ren, Yunqing, Liu, Jipeng, Yao, Dianyi, Hua, Huixia, Guo, Xiaoxuan, Dai, Huatuo, Dang, Nan, Huang, Yan, Yu, Dianhe
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2022
Materias:	Correspondence
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9481448/ https://www.ncbi.nlm.nih.gov/pubmed/35853629 http://dx.doi.org/10.1097/CM9.0000000000002190

Ejemplares similares

Hypotrichosis with Juvenile Macular Dystrophy
por: Almeida, Filipa Tavares, et al.
Publicado: (2018)

Multimodal imaging of Hypotrichosis with juvenile macular dystrophy: a case report
por: Scalzo, Giovanna Carnovale, et al.
Publicado: (2021)

The first Japanese family of CDH3‐related hypotrichosis with juvenile macular dystrophy
por: Hayashi, Takaaki, et al.
Publicado: (2021)

Causal Associations between Vitamin D Levels and Psoriasis, Atopic Dermatitis, and Vitiligo: A Bidirectional Two-Sample Mendelian Randomization Analysis
por: Ren, Yunqing, et al.
Publicado: (2022)

CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
por: Karti, Omer, et al.
Publicado: (2017)

Hypotrichosis and juvenile macular dystrophy caused by CDH3 mutation: A candidate disease for retinal gene therapy
por: Singh, Mandeep S., et al.
Publicado: (2016)

New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
por: Blanco-Kelly, Fiona, et al.
Publicado: (2017)

A unique case of vision loss in a patient with hypotrichosis and juvenile macular dystrophy and primary ciliary dyskinesia
por: Fan, Kenneth C., et al.
Publicado: (2019)

Genome-wide association analysis of anti-TNF-α treatment response in Chinese patients with psoriasis
por: Ren, Yunqing, et al.
Publicado: (2022)

Phenotypic heterogeneity of a compound heterozygous SUCLA2 mutation()()()
por: Finsterer, Josef, et al.
Publicado: (2016)

Bimatoprost in the treatment of eyelash hypotrichosis
por: Law, Simon K
Publicado: (2010)

Marie-Unna Hereditary Hypotrichosis
por: Srinivas, Sahana M, et al.
Publicado: (2014)

Hereditary Hypotrichosis Simplex of the Scalp
por: Moravvej-Farshi, Hamideh, et al.
Publicado: (2014)

Compound heterozygous mutations in WFS1 cause atypical Wolfram syndrome
por: Pan, Yun-Di, et al.
Publicado: (2019)

Novel compound heterozygous mutations in the CHST6 gene cause macular corneal dystrophy in a Han Chinese family
por: Huang, Yanxia, et al.
Publicado: (2021)

Management of hypotrichosis of the eyelashes: Focus on bimatoprost
por: Fagien, Steven
Publicado: (2010)

Hypotrichosis in a Child with Olmsted Syndrome
por: Polly, David, et al.
Publicado: (2018)

Hypotrichosis with juvenile macular dystrophy: Combination of whole‐genome sequencing and genome‐wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole‐exome sequencing—A lesson from next‐generation sequencing
por: Saeidian, Amir Hossein, et al.
Publicado: (2019)

Giant Axonal Neuropathy with Unusual Neuroimagings Caused by Compound Heterozygous Mutations in GAN Gene
por: Cai, Shuang, et al.
Publicado: (2018)

Therapeutic potential of bimatoprost for the treatment of eyebrow hypotrichosis
por: Chanasumon, Nongsak, et al.
Publicado: (2018)

Bimatoprost 0.03% for the Treatment of Eyebrow Hypotrichosis
por: Carruthers, Jean, et al.
Publicado: (2016)

Leukodystrophy without Ovarian Failure Caused by Compound Heterozygous Alanyl-tRNA Synthetase 2 Mutations
por: Sun, Jian, et al.
Publicado: (2017)

Detection of compound heterozygous variants in LPIN1 does not necessarily imply pathogenicity in a patient with rhabdomyolysis
por: Finsterer, Josef, et al.
Publicado: (2020)

Discovery of Novel Genetic Risk Loci for Acute Central Serous Chorioretinopathy and Genetic Pleiotropic Effect With Age-Related Macular Degeneration
por: Feng, Lei, et al.
Publicado: (2021)

Severe congenital hemolytic anemia caused by a novel compound heterozygous PKLR gene mutation in a Chinese boy
por: Liu, Peng-Peng, et al.
Publicado: (2019)

A rare case with compound heterozygous mutations of piezo-type mechanosensitive ion channel component 2 (PIEZO2) induced tracheobronchomalacia
por: Wu, Juan, et al.
Publicado: (2021)

Upadacitinib for Successful Treatment of Alopecia Universalis in a Child: A Case Report and Literature Review
por: YU, Dianhe, et al.
Publicado: (2023)

Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants
por: Katagiri, Satoshi, et al.
Publicado: (2018)

Autosomal Recessive Rod-Cone Dystrophy Associated With Compound Heterozygous Variants in ARL3 Gene
por: Fu, Leming, et al.
Publicado: (2021)

Limb girdle muscular dystrophy 23 caused by compound heterozygous mutations of LAMA2 gene
por: Xu, Yuqing, et al.
Publicado: (2023)

Treatment of hereditary hypotrichosis simplex of the scalp with oral minoxidil and growth factors
por: Vastarella, Marina, et al.
Publicado: (2022)

Occult Macular Dystrophy
por: Sayman Muslubaş, Işıl, et al.
Publicado: (2016)

First Identification of Compound Heterozygous FKRP Mutations in a Korean Patient with Limb-Girdle Muscular Dystrophy
por: Park, Hyung Jun, et al.
Publicado: (2016)

Compound heterozygous mutations in TGFBI cause a severe phenotype of granular corneal dystrophy type 2
por: Jun, Ikhyun, et al.
Publicado: (2021)

Compound heterozygous PLA2G6 loss-of-function variants in Swaledale sheep with neuroaxonal dystrophy
por: Letko, Anna, et al.
Publicado: (2020)

Delineation of Novel Compound Heterozygous Variants in LTBP2 Associated with Juvenile Open Angle Glaucoma
por: Saeedi, Osamah, et al.
Publicado: (2018)

SOX2 heterozygous mutations cause multiple extraocular phenotypes in boys
por: Wang, Yi, et al.
Publicado: (2022)

The hairless (hr) gene is involved in the congenital hypotrichosis of Valle del Belice sheep
por: Finocchiaro, Raffaella, et al.
Publicado: (2003)

Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp
por: van der Velden, Jaap J. A. J., et al.
Publicado: (2019)

‘Metaphyseal dysplasia without hypotrichosis’ can present with late-onset extraskeletal manifestations
por: Vakkilainen, Svetlana, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_o3vtqei8haes40quleg3uv30kr