Figure 1
From: Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia
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.
