PubMed ID | Description |
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16103912 | Missense mutations and one nonsense mutation in ZFPM2 in two individuals with tetralogy of Fallot and double outlet right ventricle / congenital diaphragmatic hernia |
21525063 | Two probands with deletion involving ZFPM2 only or part of ZFPM2 and first exon of adjacent gene OXR1. Probands had congenital diaphragmatic hernia. |
Of note, partial deletions of ZFPM2 within larger deletions in 8q22.2q22.3 in two patients with developmental delay, dysmorphic features, and other anomalies. Individuals with ZFPM2 partial deletion had diaphragmatic hernia also, fitting the expected phenotype for ZFPM2 loss of function (PMID 21739578).