A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of <scp>Beckwith‐Wiedemann</scp> and Temple syndromes-Reference-Cited by-同舟云学术

A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of Beckwith‐Wiedemann and Temple syndromes

Published:2022-03-09 Issue:6 Volume:188 Page:1896-1903
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Grosvenor Sarah E.¹,Davies Justin H.¹²^ORCID,Lever Margaret³,Sillibourne Julie³,Mackay Deborah J. G.¹³^ORCID,Temple I. Karen¹⁴^ORCID

Affiliation:

1. Human Development and Health, Faculty of Medicine University of Southampton Tremona Road Southampton UK

2. Department of Paediatric Endocrinology University Hospital Southampton NHS Foundation Trusts Southampton UK

3. Wessex Regional Genetics Laboratory Salisbury NHS Foundation Trust Salisbury UK

4. Wessex Clinical Genetics Service University Hospital Southampton NHS Foundation Trusts Southampton UK

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62717

Reference20 articles.

1. ZAC, LIT1 (KCNQ1OT1) and p57KIP2 (CDKN1C) are in an imprinted gene network that may play a role in Beckwith-Wiedemann syndrome

2. Complex Tissue-Specific Epigenotypes in Russell-Silver Syndrome Associated with 11p15 ICR1 Hypomethylation

3. Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

4. Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbances

5. Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement

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