MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism-Reference-Cited by-同舟云学术

MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism

Author:

Yamamoto Toshiyuki¹²^ORCID,Shimojima Keiko¹²,Ondo Yumiko²,Shimakawa Shuichi³,Okamoto Nobuhiko⁴^ORCID

Affiliation:

1. Institute of Medical GeneticsTokyo Women's Medical UniversityTokyoJapan

2. Tokyo Women's Medical University Institute for Integrated Medical SciencesTokyoJapan

3. Department of PediatricsOsaka Medical CollegeOsakaJapan

4. Department of Medical GeneticsOsaka Medical Center and Research Institute for Maternal and Child HealthOsakaJapan

Funder

Japan Agency for Medical Research and Development

Ministry of Health, Labour and Welfare

Japan Society for the Promotion of Science

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

Reference13 articles.

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