GPC4 truncating variant associated with Keipert syndrome and lacrimal punctal agenesis
Yukiko Kuroda,
Takeshi Uehara,
Yumi Enomoto
et al.
Abstract:Lacrimal punctal agenesis is an extremely rare condition with an unclear genetic basis. Here, we report a 3‐year‐old male patient harboring a hemizygous variant in glypican 4 (GPC4), which causes Keipert syndrome, who presented with complete lacrimal punctal agenesis, distinctive craniofacial features, mild developmental delay, mild intellectual disability, and autism. The craniofacial features included a prominent forehead, epicanthus, depressed and broad nasal bridge, hypoplastic columella, midface hypoplasi… Show more
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