Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature-Reference-Cited by-同舟云学术

Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature

Published:2014-08-13 Issue:5 Volume:23 Page:610-615
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Klaassens Merel,Morrogh Deborah,Rosser Elisabeth M,Jaffer Fatima,Vreeburg Maaike,Bok Levinus A,Segboer Tim,van Belzen Martine,Quinlivan Ros M,Kumar Ajith,Hurst Jane A,Scott Richard H

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2014162.pdf

Reference23 articles.

1. Neylon OM, Werther GA, Sabin MA : Overgrowth syndromes. Curr Opin Pediatr 2012; 24: 505–511.

2. Douglas J, Hanks S, Temple IK et al: NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. Am J Hum Genet 2003; 72: 132–143.

3. De Boer L, Van Duyvenvoorde HA, Willemstein-Van Hove EC et al: Mutations in the NSD1 gene in patients with Sotos syndrome associate with endocrine and paracrine alterations in the IGF system. Eur J Endocrinol 2004; 151: 333–341.

4. Auvin S, Holder-Espinasse M, Lamblin MD, Andrieux J : Array-CGH detection of a de novo 0.7-Mb deletion in 19p13.13 including CACNA1A associated with mental retardation and epilepsy with infantile spasms. Epilepsia 2009; 50: 2501–2503.

5. Dolan M, Mendelsohn NJ, Pierpont ME, Schimmenti LA, Berry SA, Hirsch B : A novel microdeletion/microduplication syndrome of 19p13.13. Genet Med 2010; 12: 503–511.

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1. A rare cause of intellectual disability: Novel mutations of NFIX gene in two patients with clinical features of Marshall–Smith syndrome and Malan syndrome;International Journal of Developmental Neuroscience;2023-06-19

2. Erythroid lineage chromatin accessibility maps facilitate identification and validation of NFIX as a fetal hemoglobin repressor;Communications Biology;2023-06-14

3. Behavioral profiling in children and adolescents with Malan syndrome;Frontiers in Child and Adolescent Psychiatry;2023-02-21

4. Case Report: Novel pathogenic variant in NFIX in two sisters with Malan syndrome due to germline mosaicism;Frontiers in Genetics;2022-11-09

5. Early diagnosis of Malan syndrome in an infant presenting with macrocephaly;BMJ Case Reports;2022-11