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Biallelic novel variants in ZNF469 causing Brittle Cornea Syndrome 1: a detailed report of an Indian patient.
Shifali Gupta
Anu Kumari
Roshan Daniel
Sonam Yangzes
Priyanka Srivastava
Anupriya Kaur
Published in:
Ophthalmic genetics (2024)
causative of Brittle Cornea Syndrome 1 and shall acquaint the physicians about this potentially vision threatening, underdiagnosed, rare syndrome.
Keyphrases
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case report
primary care
gene expression
dna methylation
intellectual disability
autism spectrum disorder