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Case reports

Whole-Exome Sequencing Identifies DYNC2H1 Mutations as a Cause of Jeune Asphyxiating Thoracic Dystrophy Without Extra‐Skeletal Organ Involvement

Ali Alsuheel Asseri1 Department of Child Health, King Khalid University, Abha, 61421, Saudi ArabiaCorrespondence[email protected]

https://orcid.org/0000-0001-9858-9789 View further author information

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Ahmad A Alzoani2 Department of Neonatology, Abha Maternity and Children Hospital, Ministry of Health, Abha, 62521, Saudi ArabiaView further author information

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Mohammed Almahdi3 Department of Pediatrics, Abha Maternity and Children Hospital, Ministry of Health, Abha, 62521, Saudi ArabiaView further author information

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Hussein Almahdi4 College of Medicine, King Khalid University, Abha, 61421, Saudi ArabiaView further author information

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Nouf Almushayt3 Department of Pediatrics, Abha Maternity and Children Hospital, Ministry of Health, Abha, 62521, Saudi ArabiaView further author information

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Noha Saad Alyazidi3 Department of Pediatrics, Abha Maternity and Children Hospital, Ministry of Health, Abha, 62521, Saudi ArabiaView further author information

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Basmah Mohammed Al Mufarrih5 Department of Obstetrics and Gynecology, Abha Maternity and Children Hospital, Ministry of Health, Abha, 62521, Saudi ArabiaView further author information