First trimester ultrasound features of X-linked Opitz syndrome and early molecular diagnosis: case report and review of the literature-Reference-Cited by-同舟云学术

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

Published:2019-10-21 Issue:18 Volume:34 Page:3089-3093
ISSN:1476-7058
Container-title:The Journal of Maternal-Fetal & Neonatal Medicine
language:en
Short-container-title:The Journal of Maternal-Fetal & Neonatal Medicine

Author:

Sarno Laura¹,Maruotti Giuseppe Maria¹,Izzo Antonella²^ORCID,Mazzaccara Cristina²³,Carbone Luigi¹,Esposito Giuseppina¹,Di Cresce Marco¹,Saccone Gabriele¹^ORCID,Sirico Angelo¹,Genesio Rita¹,Mollo Nunzia²,Martinelli Pasquale¹,Conti Anna²,Zullo Fulvio¹,Frisso Giulia²³

Affiliation:

1. Department of Neurosciences, Reproductive Sciences and Dentistry, University Federico II, Naples, Italy

2. Department of Molecular Medicine and Medical Biotechnologies, University Federico II, Naples, Italy

3. CEINGE, Advanced Biotechnologies, Naples, Italy

Publisher

Informa UK Limited

Subject

Obstetrics and Gynaecology,Pediatrics, Perinatology, and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/14767058.2019.1677594

Reference20 articles.

1. New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome

2. X-linked Opitz syndrome: Novel mutations in theMID1gene and redefinition of the clinical spectrum

3. A structure–function study of MID1 mutations associated with a mild Opitz phenotype

4. Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome

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