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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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Dettagli Bibliografici
Pubblicato in:BMC Res Notes
Autori principali: Abu-Amero, Khaled K., Kondkar, Altaf A., Khan, Arif O.
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2017
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5674732/
https://ncbi.nlm.nih.gov/pubmed/29110737
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13104-017-2888-y
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