Article

Whole-exome Sequencing Identified a Novel Heterozygous Mutation of SALL1 and a New Homozygous Mutation of PTPRQ in a Chinese Family With Townes-brocks Syndrome and Hearing Loss

2021-01-05

Abstract excerpt

<title>Abstract</title> <p>Background: Previous studies have revealed that mutations of <italic>Spalt Like Transcription Factor 1 </italic>(<italic>SALL1</italic>) are responsible for Townes-Brocks syndrome (TBS), a rare genetic disorder that is characterized by an imperforate anus, dysplastic ears, thumb malformations and other abnormalities, such as hearing loss, foot malformations, renal impairment with or wit...

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Literature Corpus work: 72bde5e2-7f8d-5233-90df-fd9a7dcceb35
DOI: 10.21203/rs.3.rs-137862/v1

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