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Compound Heterozygous Splicing Variants In KIAA0586 Cause Fetal Short-Rib Thoracic Dysplasia And Cerebellar Malformation: The Use of Whole Exome Sequencing In Prenatal Diagnosis

2021-09-21

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<title>Abstract</title> <p><bold>Background: </bold>Short-rib thoracic dysplasia (SRTD) and Joubert syndrome (JS) are rare genetic ciliopathies, both patients can manifest cerebellar malformation and variable developmental delays. However, neither could be easily diagnosed during pregnancy due to limited fetal phenotype. Here, we investigated a fetus with short limbs, polydactyly initially and uncovered a compoun...

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Literature Corpus work: 987ba3e3-4875-57bd-9a62-648c629221a2
DOI: 10.21203/rs.3.rs-886998/v1

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Compound Heterozygous Splicing Variants In KIAA0586 Cause Fetal Short-Rib Thoracic Dysplasia And Cerebellar Malformation: The Use of Whole Exome Sequencing In Prenatal DiagnosisDOI 10.21203/rs.3.rs-886998/v1Read

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