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PedAM

Pediatric Disease Annotations & Medicines




Disease microcephaly
Phenotype C0024236|lymphedema
Sentences 3
PubMedID- 24327603 Recent insight from genetic studies further support the notion that kif11 is required for development of normal retinal and lymphatic vessels, since kif11 mutations cause autosomal-dominant microcephaly associated with lymphedema and/or chorioretinopathy [33].
PubMedID- 25764055 Autosomal dominant microcephaly associated with congenital lymphedema and chorioretinopathy due to a novel mutation in kif11.
PubMedID- 22284827 Mutations in kif11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.

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