Burn‐McKeown syndrome with biallelic promoter type 2 deletion in TXNL4A in two siblings
Author:
Affiliation:
1. Department of Medical Genetics, Kasturba Medical College, ManipalManipal Academy of Higher Education Manipal India
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61554
Reference5 articles.
1. New dysmorphic syndrome with choanal atresia in siblings
2. Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia
3. A novel oculo-oto-facial dysplasia in a Native Alaskan community with autosomal recessive inheritance
4. Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature
5. Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome
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1. A Novel Missense Variant in the TCOF1 Gene in one Chinese Case With Treacher Collins Syndrome;The Cleft Palate-Craniofacial Journal;2022-09-09
2. Expanding the genotypic spectrum of TXNL4A variants in Burn‐McKeown syndrome;Clinical Genetics;2021-11-05
3. The Role of the U5 snRNP in Genetic Disorders and Cancer;Frontiers in Genetics;2021-01-28
4. Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells;PLOS ONE;2020-07-31
5. Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells;2020-05-14
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