Case Report of Proliferative Peripheral Retinopathy in Two Familial Lissencephaly Infants with Miller–Dieker Syndrome

A complete ophthalmic examination is not routinely performed on infants with Miller–Dieker syndrome (MDS, chromosome 17p13.3 microdeletion). The authors present the cases of four cousins with MDS who also carried a 16p13.3 microduplication (not associated with Rubinstein–Taybi syndrome). Retinopathy...

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Udgivet i:J Pediatr Genet
Main Authors: Shoukfeh, Omar, Richards, Alan B., Prouty, Leonard A., Hinrichsen, John, Spencer, William Rand, Langford, Marlyn P.
Format: Artigo
Sprog:Inglês
Udgivet: Georg Thieme Verlag KG 2018
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5916799/
https://ncbi.nlm.nih.gov/pubmed/29707411
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0037-1612638
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