19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome-Reference-Cited by-同舟云学术

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19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome

Published:2016-09-22 Issue:1 Volume:9 Page:
ISSN:1755-8166
Container-title:Molecular Cytogenetics
language:en
Short-container-title:Mol Cytogenet

Author:

Dong Hai-Yun,Zeng Hui,Hu Yi-Qiao,Xie Li,Wang Jian,Wang Xiu-Ying,Yang Yi-Feng,Tan Zhi-Ping

Funder

the National Natural Science Foundation of China

Publisher

Springer Science and Business Media LLC

Subject

Biochemistry, medical,Genetics(clinical),Genetics,Molecular Biology,Molecular Medicine,Biochemistry

Link

http://link.springer.com/content/pdf/10.1186/s13039-016-0282-4.pdf

Reference27 articles.

1. Baujat G, Rio M, Rossignol S, Sanlaville D, Lyonnet S, Le Merrer M, Munnich A, Gicquel C, Colleaux L, Cormier-Daire V. Clinical and molecular overlap in overgrowth syndromes. Am J Med Genet C Semin Med Genet. 2005;137C(1):4–11.

2. Klaassens M, Morrogh D, Rosser EM, Jaffer F, Vreeburg M, Bok LA, Segboer T, van Belzen M, Quinlivan RM, Kumar A, et al. Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature. Eur J Hum Genet. 2015;23(5):610–5.

3. Gurrieri F, Cavaliere ML, Wischmeijer A, Mammi C, Neri G, Pisanti MA, Rodella G, Lagana C, Priolo M. NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series. Eur J Med Genet. 2015;58(9):488–91.

4. Shimojima K, Okamoto N, Tamasaki A, Sangu N, Shimada S, Yamamoto T. An association of 19p13.2 microdeletions with Malan syndrome and Chiari malformation. Am J Med Genet A. 2015;167A(4):724–30.

5. Driller K, Pagenstecher A, Uhl M, Omran H, Berlis A, Grunder A, Sippel AE. Nuclear factor I X deficiency causes brain malformation and severe skeletal defects. Mol Cell Biol. 2007;27(10):3855–67.

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1. Malan syndrome in a patient with 19p13.2p13.12 deletion encompassing NFIX and CACNA1A genes: Case report and review of the literature;Molecular Genetics & Genomic Medicine;2019-10

2. Complex Phenotypes: Mechanisms Underlying Variation in Human Stature;Current Osteoporosis Reports;2019-08-22

3. Abnormal Body Size and Proportion;Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics;2019

4. NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly;The American Journal of Human Genetics;2018-11

5. Further delineation of Malan syndrome;Human Mutation;2018-06-25

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