5q35 duplication syndrome: Narrowing the critical region on the distal side and further evidence of intrafamilial variability and expression-Reference-Cited by-同舟云学术

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5q35 duplication syndrome: Narrowing the critical region on the distal side and further evidence of intrafamilial variability and expression

Published:2022-12-02 Issue:3 Volume:191 Page:835-841
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:

van der Lugt Neeltje Margreth¹^ORCID,Weerts Marjolein J. A.²,Veenma Danielle C. M.¹,Lincke Carsten R.¹,Gischler Saskia J.³,Alders Marielle⁴,van Ierland Yvette²

Affiliation:

1. Department of Pediatrics Erasmus MC Sophia Rotterdam The Netherlands

2. Department of Clinical Genetics Erasmus MC Rotterdam The Netherlands

3. Department of Pediatric Surgery Erasmus MC Sophia Rotterdam The Netherlands

4. Department of Human Genetics, Amsterdam University Medical Center University of Amsterdam Amsterdam The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63068

Reference19 articles.

1. Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

2. Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q

3. A cross-disorder dosage sensitivity map of the human genome

4. The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1 : Is it really a reversed sotos syndrome?

5. A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion

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