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Article

Burn-McKeown syndrome with biallelic promoter type 2 deletion in TXNL4A in two siblings.

American journal of medical genetics. Part A - 1 Jun 2020

Narayanan Dhanya L, Purushothama Greeshma, Bhavani Gandham Sl, Shukla Anju

Abstract excerpt

Burn-McKeown syndrome (BMKS) (MIM# 608572) is a rare condition caused by biallelic variants in TXNL4A. BMKS is characterized by craniofacial dysmorphism, choanal atresia, and normal intellect in affected individuals. BMKS has overlapping clinical features with Treacher Collins syndrome. Till date, 15 families have been described with BMKS. Homozygosity or compound heterozygosity of promoter deletions and null...

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PMID: 32187816
DOI: 10.1002/ajmg.a.61554

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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