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...

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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

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