A microdeletion in the GRHL2 Gene in two unrelated patients with congenital fibrosis of the extra ocular muscles

OBJECTIVE: Congenital fibrosis of the extraocular muscles type 1 (CFEOM1) is known to be caused by mutations in KIF21A or TUBB3 or other known genes (SALL4, CHN1, HOXA1). However, affected children may harbor other genetic defects. Therefore, a candidate gene analysis (KIF21A, TUBB3 SALL4, CHN1, HOX...

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Detalles Bibliográficos
Autores principales: Abu-Amero, Khaled K., Kondkar, Altaf A., Khan, Arif O.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research Note
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5674732/
https://www.ncbi.nlm.nih.gov/pubmed/29110737
http://dx.doi.org/10.1186/s13104-017-2888-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5674732/
https://www.ncbi.nlm.nih.gov/pubmed/29110737
http://dx.doi.org/10.1186/s13104-017-2888-y

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