Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?-Reference-Cited by-同舟云学术

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Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?

Published:2020-01-14 Issue:3 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Pezzani Lidia¹,Pezzoli Laura¹,Pansa Alessandra¹,Facchinetti Barbara¹,Marchetti Daniela¹,Scatigno Agnese²,Lincesso Anna R.¹,Perego Loredana¹,Pingue Monica¹,Pellicioli Isabella³,Migliazza Lucia⁴,Mangili Giovanna⁵,Galletti Lorenzo⁶,Giussani Ursula¹,Bonanomi Ezio³,Cereda Anna²,Iascone Maria¹^ORCID

Affiliation:

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

2. Pediatria ASST Papa Giovanni XXIII Bergamo Italy

3. Terapia Intensiva Pediatrica ASST Papa Giovanni XXIII Bergamo Italy

4. Chirurgia Pediatrica ASST Papa Giovanni XXIII Bergamo Italy

5. Patologia Neonatale ASST Papa Giovanni XXIII Bergamo Italy

6. Cardiochirurgia ASST Papa Giovanni XXIII Bergamo Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1064

Reference24 articles.

1. Refractory Infantile Spasms Associated With Mosaic Variegated Aneuploidy Syndrome

2. Mosaic-variegated aneuploidy syndrome mutation or haploinsufficiency in Cep57 impairs tumor suppression

3. Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families

4. Mosaic variegated aneuploidy syndrome caused by a CEP57 mutation diagnosed by whole exome sequencing

5. DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III

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1. Mosaic variegated aneuploidy in development, ageing and cancer;Nature Reviews Genetics;2024-08-21

2. No, it is not mutually exclusive! A case report of a girl with two genetic diagnoses: Craniofrontonasal dysplasia and pontocerebellar hypoplasia type 1B;Clinical Case Reports;2023-05

3. Mosaic variegated aneuploidy syndrome 2 with biallelic novel CEP57 splice site variation in Indian siblings: Expanding the clinical and molecular spectrum;Clinical Genetics;2023-01-23

4. Novel Insulin-Like Growth Factor 1 Gene Mutation: Broadening of the Phenotype and Implications for Insulin Resistance;The Journal of Clinical Endocrinology & Metabolism;2022-12-21

5. Dual Molecular Diagnoses of Recessive Disorders in a Child from Consanguineous Parents: Case Report and Literature Review;Genes;2022-12-16

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