Link: De novo SETD5 nonsense mutation associated with diaphragmatic hernia and severe cerebral cortical dysplasia.

DarleneSilverman · Created by DarleneSilverman Created at 09-04-2018 08:34 PM

Link: https://www.ncbi.nlm.nih.gov/pubmed/28263952

Clin Dysmorphol. 2017 Apr;26(2):95-97. doi: 10.1097/MCD.0000000000000144.
De novo SETD5 nonsense mutation associated with diaphragmatic hernia and severe cerebral cortical dysplasia.
Rawlins LE1, Stals KL, Eason JD, Turnpenny PD.
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PMID: 28263952 DOI: 10.1097/MCD.0000000000000144
[Indexed for MEDLINE]
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