A de novo 10.1-Mb 3p25 terminal deletion including SETD5 in a patient with ptosis and psychomotor retardation

Pediatr Neonatol. 2018 Jun;59(3):319-321. doi: 10.1016/j.pedneo.2017.09.004. Epub 2017 Sep 6.

Authors

Hideaki Yagasaki¹, Takako Toda², Keiichi Koizumi², Takeshi Sugiyama², Tetsuo Ohyama², Minako Hoshiai², Takaya Nakane², Kanji Sugita²

Affiliations

¹ Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan. Electronic address: yagasaki@mwd.biglobe.ne.jp.
² Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan.

PMID: 28951171
DOI: 10.1016/j.pedneo.2017.09.004

No abstract available

Publication types

Case Reports

MeSH terms

Blepharoptosis / genetics*
Chromosome Deletion*
Chromosomes, Human, Pair 3
Humans
Infant, Newborn
Intellectual Disability / genetics*
Male
Methyltransferases / genetics*

Substances

Methyltransferases
SETD5 protein, human

Supplementary concepts

Chromosome 3, monosomy 3p25