Further delineation of <scp> <i>SET</i> </scp> ‐related intellectual disability syndrome-Reference-Cited by-同舟云学术

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Further delineation of SET ‐related intellectual disability syndrome

Published:2022-02-05 Issue:5 Volume:188 Page:1595-1599
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Shono Kenta¹,Enomoto Yumi²,Tsurusaki Yoshinori²,Kumaki Tatsuro¹,Masuno Mitsuo³,Kurosawa Kenji¹^ORCID

Affiliation:

1. Division of Medical Genetics Kanagawa Children's Medical Center Yokohama Japan

2. Clinical Research Institute Kanagawa Children's Medical Center Yokohama Japan

3. Genetic Counseling Program Graduate School of Health and Welfare, Kawasaki University of Medical Welfare Kurashiki Japan

Funder

Japan Agency for Medical Research and Development

Japan Society for the Promotion of Science

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62681

Reference13 articles.

1. Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A

2. Alternative SET/TAFI Promoters Regulate Embryonic Stem Cell Differentiation

3. Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?

4. CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability

5. Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype

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