A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant]

BACKGROUND: We report on a 6-year-old Turkish boy with profound sensorineural deafness, balance disorder, severe disorder of oral motor function, and mild developmental delay. Further findings included scaphocephaly, plagiocephaly, long palpebral fissures, high narrow palate, low-set posteriorly rot...

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Detalles Bibliográficos
Autores principales: Schröder, Julia C, Läßig, Anne K, Galetzka, Danuta, Peters, Angelika, Castle, John C, Diederich, Stefan, Zechner, Ulrich, Müller-Forell, Wibke, Keilmann, Annerose, Bartsch, Oliver
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3599919/
https://www.ncbi.nlm.nih.gov/pubmed/23419067
http://dx.doi.org/10.1186/1744-9081-9-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3599919/
https://www.ncbi.nlm.nih.gov/pubmed/23419067
http://dx.doi.org/10.1186/1744-9081-9-7

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