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-Reference-Cited by-同舟云学术

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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

Published:2023-04-26 Issue:1 Volume:36 Page:
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:

Fontana Paolo¹,Agolini Emanuele²,Cocciadiferro Dario²,Mazzarelli Laura Letizia³,Di Meglio Aniello³,Novelli Antonio²,Scarano Gioacchino¹,Lombardi Cinzia¹,Ciavarella Maria¹,Lonardo Fortunato¹

Affiliation:

1. Medical Genetics Unit – P.O. Gaetano Rummo – A.O.R.N, Benevento (BN), Italy San Pio

2. Translational Cytogenomics Research Unit, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy

3. Diagnostica Ecografica e Prenatale Aniello Di Meglio, Napoli, Italy

Publisher

Informa UK Limited

Subject

Obstetrics and Gynecology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/14767058.2023.2205985

Reference19 articles.

1. Multiple Mouse Chromosomal Loci for Dynein-Based Motility

2. The Intraflagellar Transport Machinery

3. Exome sequencing identifiesDYNC2H1mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

4. Primary Cilium-Dependent Signaling Mechanisms

5. Signaling through the Primary Cilium

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