SPECC1L Mutations Are Not Common in Sporadic Cases of Opitz G/BBB Syndrome

Opitz G/BBB syndrome (OS) is a rare genetic developmental condition characterized by congenital defects along the midline of the body. The main clinical signs are represented by hypertelorism, laryngo–tracheo–esophageal defects and hypospadias. The X-linked form of the disease is associated with mut...

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Detalles Bibliográficos
Autores principales: Migliore, Chiara, Vendramin, Anna, McKee, Shane, Prontera, Paolo, Faravelli, Francesca, Sachdev, Rani, Dias, Patricia, Mascaro, Martina, Licastro, Danilo, Meroni, Germana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8871657/
https://www.ncbi.nlm.nih.gov/pubmed/35205294
http://dx.doi.org/10.3390/genes13020252

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