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Early prenatal diagnosis of a recurrent case of short-rib thoracic dysplasia 3 due to compound heterozygosity for variations in the DYNC2H1 gene: an “ultrasound first” approach

Paolo Fontanaa Medical Genetics Unit – P.O. Gaetano Rummo – A.O.R.N, Benevento(BN), Italy San PioCorrespondence[email protected]
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Emanuele Agolinib Translational Cytogenomics Research Unit, Bambino Gesù Children’s Hospital, IRCCS, Rome, ItalyView further author information

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Dario Cocciadiferrob Translational Cytogenomics Research Unit, Bambino Gesù Children’s Hospital, IRCCS, Rome, ItalyView further author information

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Laura Letizia Mazzarellic Diagnostica Ecografica e Prenatale Aniello Di Meglio, Napoli, ItalyView further author information

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Aniello Di Meglioc Diagnostica Ecografica e Prenatale Aniello Di Meglio, Napoli, ItalyView further author information

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Antonio Novellib Translational Cytogenomics Research Unit, Bambino Gesù Children’s Hospital, IRCCS, Rome, ItalyView further author information

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Gioacchino Scaranoa Medical Genetics Unit – P.O. Gaetano Rummo – A.O.R.N, Benevento(BN), Italy San PioView further author information

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Cinzia Lombardia Medical Genetics Unit – P.O. Gaetano Rummo – A.O.R.N, Benevento(BN), Italy San PioView further author information

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Maria Ciavarellaa Medical Genetics Unit – P.O. Gaetano Rummo – A.O.R.N, Benevento(BN), Italy San PioView further author information

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Fortunato Lonardoa Medical Genetics Unit – P.O. Gaetano Rummo – A.O.R.N, Benevento(BN), Italy San PioView further author information