Article

A case of short rib thoracic dysplasia-16 associated with the IFT52 c424C>T mutation

2023-09-20

Abstract excerpt

Short rib thoracic dysplasia (SRTD) includes a group of autosomal recessively inherited skeletal ciliopathy with multiorgan involvement. It has distinctive but overlapping clinical phenotypes making the clinical diagnosis difficult. Characteristic radiological features support the clinical diagnosis. Mutations affecting 35 different genes have been identified, complicating the genetic diagnosis. We report an infan...

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Literature Corpus work: 9831362f-6188-5e14-8bbd-4c829e651138
DOI: 10.21203/rs.3.rs-3269915/v1

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