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. 2017 Jul 26;25(10):1126–1133. doi: 10.1038/ejhg.2017.107

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Pedigrees of families. Symbol definitions: not affected, BMKS, lagophtalmos, choanal atresia, prognathism and maxillary hypoplasia. 1Δ, promoter deletion type 1Δ (hg19 chr18:g.77748581_77748614del), 2Δ, promoter deletion type 2Δ (hg19 chr18: g.77748604_77748637del); NA, not available; Spl, splice site variant, −/−, no causative variant in TXNL4A.

Inline graphic — Pedigrees of families. Symbol definitions: not affected, BMKS, lagophtalmos, choanal atresia, prognathism and maxillary hypoplasia. 1Δ, promoter deletion type 1Δ (hg19 chr18:g.77748581_77748614del), 2Δ, promoter deletion type 2Δ (hg19 chr18: g.77748604_77748637del); NA, not available; Spl, splice site variant, −/−, no causative variant in TXNL4A.