Family history is key to the interpretation of exome sequencing in the prenatal context: unexpected diagnosis of Basal Cell Nevus Syndrome-Reference-Cited by-同舟云学术

Family history is key to the interpretation of exome sequencing in the prenatal context: unexpected diagnosis of Basal Cell Nevus Syndrome

Published:2022-05-27 Issue:7 Volume:42 Page:927-933
ISSN:0197-3851
Container-title:Prenatal Diagnosis
language:en
Short-container-title:Prenatal Diagnosis

Author:

Rinaldi Berardo¹^ORCID,Cesaretti Claudia¹,Boito Simona²,Villa Roberta¹,Guerneri Silvana³,Borzani Irene⁴,Rizzuti Tommaso⁵,Marchetti Daniela⁶,Conte Giorgio⁷⁸,Cinnante Claudia⁹,Triulzi Fabio⁷⁸,Persico Nicola²¹⁰,Iascone Maria⁶,Natacci Federica¹

Affiliation:

1. Medical Genetics Unit Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy

2. Fetal Medicine and Surgery Service Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico Milan Italy

3. Laboratory of Medical Genetics Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy

4. Pediatric Radiology Unit Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy

5. Division of Pathology Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy

6. Laboratorio di Genetica Medica ASST Papa Giovanni XXIII Bergamo Italy

7. Department of Neuroradiology Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico Milan Italy

8. Department of Pathophysiology and Transplantation University of Milan Milan Italy

9. Istituto Auxologico Italiano IRCCS Dipartimento di Radiologia e Diagnostica per Immagini Milan Italy

10. Department of Clinical Science and Community Health University of Milan Milan Italy

Publisher

Wiley

Subject

Genetics (clinical),Obstetrics and Gynecology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/pd.6171

Reference52 articles.

1. Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

2. Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

3. Next-Generation Sequencing to Diagnose Suspected Genetic Disorders

4. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

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