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Clinical and Genetic Studies of the First Monozygotic Twins with Pfeiffer Syndrome

Objective: To report the clinical and radiographic findings and molecular etiology of the first monozygotic twins affected with Pfeiffer syndrome. Methods: Clinical and radiographic examination and whole exome sequencing were performed on two monozygotic twins with Pfeiffer syndrome. Results: An acc...

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Detalles Bibliográficos
Autores principales: Kantaputra, Piranit N., Angkurawaranon, Salita, Khwanngern, Krit, Ngamphiw, Chumpol, Intachai, Worrachet, Adisornkanj, Ploy, Tongsima, Sissades, Olsen, Bjorn, Sonsuwan, Nuntigar, Katanyuwong, Kamornwan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9601734/
https://www.ncbi.nlm.nih.gov/pubmed/36292735
http://dx.doi.org/10.3390/genes13101850