Novel and recurrent variants in PAX6 in four patients with ocular phenotypes from Southeast Asia

Jeannette Goh,Heming Wei,Angeline H. M. Lai, Benjamin Chang, Shazia Khan, Yamon Syn,Saumya S. Jamuar,Ene-Choo Tan

CLINICAL DYSMORPHOLOGY（2024）

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Key words

aniridia,chr 11p13,iris coloboma,olfactory neuroblastoma,PAX6

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