Novel Molecular, Structural and Clinical Findings in an Italian Cohort of Congenital Cataract.

Mauro Lecca,Lucia Mauri,Simone Gana,Alessandra Del Longo,Federica Morelli, Roberta Nicotra,Massimo Plumari,Jessica Galli,Fabio Sirchia,Enza Maria Valente,Ugo Cavallari,Marco Mazza,Sabrina Signorini,Edoardo Errichiello

CLINICAL GENETICS（2024）

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congenital cataract,crystallin,exome sequencing,genotype-phenotype correlation,next generation sequencing,phenotypic expansion,syndromic,variant clustering

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