The diagnosis of the first‐documented intragenic <scp> <i>KANSL1</i> </scp> microduplication patient broadens the genetic spectrum of Koolen de Vries syndrome-Reference-Cited by-同舟云学术

The diagnosis of the first‐documented intragenic KANSL1 microduplication patient broadens the genetic spectrum of Koolen de Vries syndrome

Published:2022-02-22 Issue:5-6 Volume:101 Page:575-576
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Martorell Loreto¹²,Yubero Delia¹²,Capdevila Esther Cuatrecasas¹,Fernández Isern Guerau¹,Salinas Diana¹,Mari Vico Rosanna³,Rebollo Mónica⁴,Muchart Jordi⁴,Armstrong Judith¹²,Ortigoza‐Escobar Juan Darío²⁵⁶

Affiliation:

1. Department of Genetic and Molecular Medicine‐IPER Institut de Recerca Sant Joan de Déu Barcelona Spain

2. U‐703 Centre for Biomedical Research on Rare Diseases (CIBER‐ER) Instituto de Salud Carlos III Barcelona Spain

3. Department of Rehabilitation Institut de Recerca Sant Joan de Déu Barcelona Spain

4. Department of Radiology Institut de Recerca Sant Joan de Déu Barcelona Spain

5. Movement Disorders Unit, Department of Child Neurology Institut de Recerca Sant Joan de Déu

6. European Reference Network for Rare Neurological Diseases (ERN‐RND) Barcelona Spain

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14124

Reference4 articles.

1. The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

2. Prenatal chromosomal microarray analysis in 2466 fetuses with ultrasonographic soft markers: a prospective cohort study

3. 17q21.31 Microdeletion: Brain Anomalies Leading to Prenatal Diagnosis

4. Clinical Genetics Can Solve the Pitfalls of Genome-Wide Investigations: Lesson from Mismapping a Loss-of-Function Variant in KANSL1

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