Koolen‐de Vries syndrome in a 63‐year‐old woman: Report of the oldest patient and a review of the adult phenotype-Reference-Cited by-同舟云学术

Koolen‐de Vries syndrome in a 63‐year‐old woman: Report of the oldest patient and a review of the adult phenotype

Published:2021-10-19 Issue:2 Volume:188 Page:692-707
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:

Farnè Marianna¹^ORCID,Bernardini Laura²^ORCID,Capalbo Anna²,Cavarretta Giusy³,Torres Barbara²,Sanchini Mariabeatrice¹,Fini Sergio³,Ferlini Alessandra¹³,Bigoni Stefania³^ORCID

Affiliation:

1. Medical Genetics Unit, Department of Medical Sciences University of Ferrara Ferrara Italy

2. Medical Genetics Unit IRCCS Casa Sollievo della Sofferenza Foundation San Giovanni Rotondo (FG) Italy

3. Medical Genetics Unit, Department of Mother and Child Ferrara Sant'Anna University Hospital Ferrara Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62536

Reference23 articles.

1. Adult phenotype in Koolen‐de Vries/KANSL1 haploinsufficiency syndrome;Amenta S.;Journal of Medical Genetics,2020

2. Five cases of supernumerary small ring chromosomes 1: Heterogeneity and genotype–phenotype correlation

3. Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review

4. Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation

5. Hypersociability in the behavioral phenotype of 17q21.31 microdeletion syndrome

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