Expanding the genotypic spectrum of TXNL4A variants in Burn‐McKeown syndrome
Abstract
The developmental disorder Burn-McKeown Syndrome (BMKS) is characterised by choanal atresia and specific craniofacial features. BMKS is caused by biallelic variants in the pre-messenger RNA splicing factor TXNL4A. Most patients have a loss-of-function variant in trans with a 34-base pair (bp) deletion (type 1 Δ34) in the promoter region. Here, we identified two patients with BMKS. One individual has a TXNL4A c.93_94delCC, p.His32Argfs *21...
Paper Details
Title
Expanding the genotypic spectrum of TXNL4A variants in Burn‐McKeown syndrome
Published Date
Nov 5, 2021
Journal
Volume
101
Issue
2
Pages
255 - 259
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