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The Journal of Maternal-Fetal & Neonatal Medicine Volume 36, 2023 - Issue 1
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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
,
Dario Cocciadiferrob Translational Cytogenomics Research Unit, Bambino Gesù Children’s Hospital, IRCCS, Rome, ItalyView further author information
,
Laura Letizia Mazzarellic Diagnostica Ecografica e Prenatale Aniello Di Meglio, Napoli, ItalyView further author information
,
Aniello Di Meglioc Diagnostica Ecografica e Prenatale Aniello Di Meglio, Napoli, ItalyView further author information
,
Antonio Novellib Translational Cytogenomics Research Unit, Bambino Gesù Children’s Hospital, IRCCS, Rome, ItalyView further author information
,
Gioacchino Scaranoa Medical Genetics Unit – P.O. Gaetano Rummo – A.O.R.N, Benevento(BN), Italy San PioView further author information
,
Cinzia Lombardia Medical Genetics Unit – P.O. Gaetano Rummo – A.O.R.N, Benevento(BN), Italy San PioView further author information
,
Maria Ciavarellaa Medical Genetics Unit – P.O. Gaetano Rummo – A.O.R.N, Benevento(BN), Italy San PioView further author information
&
Fortunato Lonardoa Medical Genetics Unit – P.O. Gaetano Rummo – A.O.R.N, Benevento(BN), Italy San PioView further author information
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Article: 2205985 | Received 11 May 2022, Accepted 18 Apr 2023, Published online: 26 Apr 2023

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