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Noonan, Kristin
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Noonan, Kristin
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Concept
Agenesis of Corpus Callosum
Academic Article
Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy.
Academic Article
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.
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Agenesis of Corpus Callosum