Fetal Presentation of Walker-Warburg Syndrome with Compound Heterozygous <i>POMT2</i> Missense Mutations-Reference-Cited by-同舟云学术

Fetal Presentation of Walker-Warburg Syndrome with Compound Heterozygous POMT2 Missense Mutations

Published:2022-09-01 Issue:2 Volume:42 Page:334-341
ISSN:1551-3815
Container-title:Fetal and Pediatric Pathology
language:en
Short-container-title:Fetal and Pediatric Pathology

Author:

Zago Silvia¹,Silvestri Evelina²,Arcangeli Tiziana³,Calisesi Marina³,Romeo Chiara⁴,Parmeggiani Giulia⁵,Parrini Elena⁶,Cetica Valentina⁶,Guerrini Renzo⁶^ORCID,Palicelli Andrea⁷,Bonasoni Maria Paola⁷^ORCID

Affiliation:

1. Unit of Pathology, AUSL della Romagna, St. Maria delle Croci Hospital, Ravenna, Italy

2. Division of Pathology, Unit of Fetal and Neonatal Pathology, San Camillo-Forlanini Hospital, Rome, Italy

3. Unit of Obstetrics and Gynecology, AUSL della Romagna, St. Maria delle Croci Hospital, Ravenna, Italy

4. Unit of Radiology, AUSL della Romagna, St. Maria delle Croci Hospital, Ravenna, Italy

5. Medical Genetics Unit, AUSL della Romagna, Ospedale Bufalini, Cesena, Italy

6. Pediatric Neurology, Neurogenetics, and Neurobiology Unit and Laboratories, Meyer Children’s Hospital-University of Florence, Florence, Italy

7. Pathology Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy

Publisher

Informa UK Limited

Subject

General Medicine,Pathology and Forensic Medicine,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/15513815.2022.2116620

Reference22 articles.

1. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

2. A molecular overview of the primary dystroglycanopathies

3. Recent advancements in understanding mammalian O-mannosylation

4. Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients

5. Prenatal presentation of Walker–Warburg syndrome with a POMT2 mutation: an extended fetal phenotype

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