Article

Novel FOXE1 mutation associated with the rare Bamforth-Lazarus syndrome in an Omani family

2025-08-13

Abstract excerpt

<title>Abstract</title> <p> We present here the first case report of Bamforth-Lazarus syndrome (BLS) in two siblings from Oman, with a novel mutation, p.Phe89Leu (F89L) in the <italic>FOXE1</italic> gene. This study utilized an in-silico functional assessment strategy for use in extremely rare disorders such as BLS to assess the pathogenicity of novel variant. First, all previously reported germline pathogenic...

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Literature Corpus work: 8d2c5777-4a74-5367-80b9-862b987c27ce
DOI: 10.21203/rs.3.rs-6990815/v1

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