Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual with a De Novo PAK2 Variant.

Elizabeth A. Werren, Louisa Kalsner, Jessica M. Ewald, Michael Peracchio, Cameron King,Purva Vats,Peter A. Audano,Peter N. Robinson,Mark D. Adams, Melissa A. Kelly,Adam P. Matson

AMERICAN JOURNAL OF MEDICAL GENETICS PART A（2025）

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Key words

developmental disorder,kinase,Knobloch syndrome type 2,PAK2

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