Kleefstra syndrome: Recurrence in siblings due to a paternal mosaic mutation-Reference-Cited by-同舟云学术

Kleefstra syndrome: Recurrence in siblings due to a paternal mosaic mutation

Published:2021-08-06 Issue:12 Volume:185 Page:3877-3883
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Jobic Florence¹^ORCID,Lacot‐Leriche Emilie¹²^ORCID,Piton Amélie³^ORCID,Le Moing Anne‐Gaëlle⁴,Mathieu‐Dramard Michèle¹^ORCID,Costantini Sara¹,Morin Gilles⁵^ORCID,Jedraszak Guillaume⁵⁶^ORCID

Affiliation:

1. Reference Center for Rare Diseases Amiens‐Picardy University Hospital Amiens France

2. EA 7273 CRP‐CPO University of Picardy, Jules Verne Amiens France

3. Laboratory of Genetic Diagnosis Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg Strasbourg France

4. Department of Child Neurology Amiens‐Picardy University Hospital Amiens France

5. Genetics Laboratory Amiens‐Picardy University Hospital Amiens France

6. EA 4666 HEMATIM – CURS University of Picardy, Jules Verne Amiens France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62448

Reference26 articles.

1. Twins with Kleefstra syndrome due to chromosome 9q34.3 microdeletion;Atik T.;Genetic Counseling (Geneva, Switzerland),2015

2. Next‐generation sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability

3. New Insights into Kleefstra Syndrome: Report of Two Novel Cases with Previously Unreported Features and Literature Review

4. Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood?

5. EHMT1 mosaicism in apparently unaffected parents is associated with autism spectrum disorder and neurocognitive dysfunction