De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions-Reference-Cited by-同舟云学术

De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions

Published:2019-10-23 Issue:2 Volume:65 Page:181-186
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Ohishi Akira,Masunaga Yohei,Iijima Shigeo,Yamoto Kaori,Kato Fumiko,Fukami Maki^ORCID,Saitsu Hirotomo^ORCID,Ogata Tsutomu^ORCID

Funder

Japan Agency for Medical Research and Development

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/s10038-019-0690-5.pdf

Reference19 articles.

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2. Siggberg L, Olsén P, Näntö-Salonen K, Knuutila S. 19p13.3 aberrations are associated with dysmorphic features and deviant psychomotor development. Cytogenet Genome Res. 2011;132:8–15.

3. de Smith AJ, van Haelst MM, Ellis RJ, Holder SE, Payne SJ, Hashim SK, et al. Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behavior problems. Am J Med Genet A. 2011;155:1192–5.

4. Risheg H, Pasion R, Sacharow S, Proud V, Immken L, Schwartz S, et al. Clinical comparison of overlapping deletions of 19p13.3. Am J Med Genet A. 2013;161A:1110–6.

5. Nowaczyk MJ, Thompson BA, Zeesman S, Moog U, Sanchez-Lara PA, Magoulas PL, et al. Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy? Clin Genet. 2014;85:138–46.

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