Cargando…
Cockayne syndrome type 3 with dystonia‐ataxia and clicking blinks
Autores principales: | Gültekin‐Zaim, Özge Berna, Yalçın‐Çakmaklı, Gül, Çolpak, Ayşe İlksen, Şimşek‐Kiper, Pelin Özlem, Utine, Gülen Eda, Elibol, Bülent |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10448610/ https://www.ncbi.nlm.nih.gov/pubmed/37636235 http://dx.doi.org/10.1002/mdc3.13778 |
Ejemplares similares
-
A Diagnosis to Consider in an Adult Patient with Facial Features and Intellectual Disability: Williams Syndrome
por: Doğan, Özlem Akgün, et al.
Publicado: (2017) -
Recurrent squamous cell carcinoma and a novel mutation in a patient with xeroderma pigmentosum: a case report
por: Şahin, Ezgi Aysu, et al.
Publicado: (2022) -
Obstructive sleep apnea in children with Down syndrome: is it possible to predict severe apnea?
por: Hizal, Mina, et al.
Publicado: (2021) -
Homozygous Missense Epithelial Cell Adhesion Molecule Variant in a Patient with Congenital Tufting Enteropathy and Literature Review
por: Güvenoğlu, Merve, et al.
Publicado: (2022) -
Congenital Cataract and Its Genetics: The Era of Next-Generation Sequencing
por: Taylan Şekeroğlu, Hande, et al.
Publicado: (2021)