The Clinical and Molecular Spectrum of Trichorhinophalangeal Syndrome Types I and II in a Turkish Cohort Involving 22 Patients

OBJECTIVE: Trichorhinophalangeal syndrome is a rare autosomal dominant disorder characterized by distinctive craniofacial and skeletal abnormalities. This study aimed to delineate the trichorhinophalangeal syndrome phenotype and to compare the clinical and molecular findings between trichorhinophala...

Descripción completa

Detalles Bibliográficos
Autores principales: Güneş, Nilay, Usluer, Esra, Yüksel Ülker, Aylin, Uludağ Alkaya, Dilek, Çifçi Sunamak, Evrim, Celep Eyüpoğlu, Figen, Oya Uyguner, Zehra, Tüysüz, Beyhan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Turkish Pediatrics Association 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9885788/
https://www.ncbi.nlm.nih.gov/pubmed/36598218
http://dx.doi.org/10.5152/TurkArchPediatr.2022.22223

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9885788/
https://www.ncbi.nlm.nih.gov/pubmed/36598218
http://dx.doi.org/10.5152/TurkArchPediatr.2022.22223

Ejemplares similares