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The Journal of Maternal-Fetal & Neonatal Medicine Volume 34, 2021 - Issue 18
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Short Report

First trimester ultrasound features of X-linked Opitz syndrome and early molecular diagnosis: case report and review of the literature

Laura Sarnoa Department of Neurosciences, Reproductive Sciences and Dentistry, University Federico II, Naples, Italy
,
Giuseppe Maria Maruottia Department of Neurosciences, Reproductive Sciences and Dentistry, University Federico II, Naples, Italy
,
Antonella Izzob Department of Molecular Medicine and Medical Biotechnologies, University Federico II, Naples, ItalyCorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0002-2672-4803
ORCID Icon,
Cristina Mazzaccarab Department of Molecular Medicine and Medical Biotechnologies, University Federico II, Naples, Italy;c CEINGE, Advanced Biotechnologies, Naples, Italy
,
Luigi Carbonea Department of Neurosciences, Reproductive Sciences and Dentistry, University Federico II, Naples, Italy
,
Giuseppina Espositoa Department of Neurosciences, Reproductive Sciences and Dentistry, University Federico II, Naples, Italy
,
Marco Di Crescea Department of Neurosciences, Reproductive Sciences and Dentistry, University Federico II, Naples, Italy
,
Gabriele Sacconea Department of Neurosciences, Reproductive Sciences and Dentistry, University Federico II, Naples, ItalyORCID Iconhttps://orcid.org/0000-0003-0078-2113
ORCID Icon,
Angelo Siricoa Department of Neurosciences, Reproductive Sciences and Dentistry, University Federico II, Naples, Italy
,
Rita Genesioa Department of Neurosciences, Reproductive Sciences and Dentistry, University Federico II, Naples, Italy
,
Nunzia Mollob Department of Molecular Medicine and Medical Biotechnologies, University Federico II, Naples, Italy
,
Pasquale Martinellia Department of Neurosciences, Reproductive Sciences and Dentistry, University Federico II, Naples, Italy
,
Anna Contib Department of Molecular Medicine and Medical Biotechnologies, University Federico II, Naples, Italy
,
Fulvio Zulloa Department of Neurosciences, Reproductive Sciences and Dentistry, University Federico II, Naples, Italy
&
Giulia Frissob Department of Molecular Medicine and Medical Biotechnologies, University Federico II, Naples, Italy;c CEINGE, Advanced Biotechnologies, Naples, Italy
 show all
Pages 3089-3093 | Received 03 Jul 2019, Accepted 04 Oct 2019, Published online: 21 Oct 2019

References

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  • Cox TC, Allen LR, Cox LL, et al. New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome. Hum Mol Genet. 2000;9(17):2553–2562.
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