The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1 : Is it really a reversed sotos syndrome?-Reference-Cited by-同舟云学术

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

Published:2013-08-02 Issue:9 Volume:161 Page:2158-2166
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Dikow Nicola¹,Maas Bianca¹,Gaspar Harald²,Kreiss-Nachtsheim Martina³,Engels Hartmut³,Kuechler Alma⁴,Garbes Lutz⁵,Netzer Christian⁵,Neuhann Teresa M.⁶,Koehler Udo⁶,Casteels Kristina⁷,Devriendt Koen⁷,Janssen Johannes W.G.¹,Jauch Anna¹,Hinderhofer Katrin¹,Moog Ute¹

Affiliation:

1. Institute of Human Genetics; Heidelberg University; Heidelberg Germany

2. Institute of Human Genetics; Freiburg Medical Center; Freiburg Germany

3. Institute of Human Genetics; University of Bonn; Bonn Germany

4. Institut für Humangenetik; Universitätsklinikum Essen; Essen Germany

5. Institute of Human Genetics; University of Cologne; Cologne Germany

6. MGZ-Medizinisch Genetisches Zentrum; Munich Germany

7. University Hospitals Leuven and Department Development and Regeneration; KU Leuven Belgium

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36046/fullpdf

Reference19 articles.

1. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities;Brunetti-Pierri;Nat Genet,2008

2. Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q;Chen;Am J Med Genet Part A,2006

3. NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes;Douglas;Am J Hum Genet,2003

4. A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion;Franco;Eur J Hum Genet,2010

5. Two distinct nuclear receptor interaction domains in NSD1, a novel SET protein that exhibits characteristics of both corepressors and coactivators;Huang;EMBO J,1998

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3. The role of histone methyltransferases in neurocognitive disorders associated with brain size abnormalities;Frontiers in Neuroscience;2023-02-10

4. Rare CNVs and Known Genes Linked to Macrocephaly: Review of Genomic Loci and Promising Candidate Genes;Genes;2022-12-04

5. 5q35 duplication syndrome: Narrowing the critical region on the distal side and further evidence of intrafamilial variability and expression;American Journal of Medical Genetics Part A;2022-12-02

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