A female patient with X‐linked Ohdo syndrome of the Maat‐Kievit‐Brunner phenotype caused by a novel variant of MED12
- 19 July 2019
- journal article
- research article
- Published by Wiley in Congenital Anomalies
- Vol. 60 (3) , 91-93
Abstract
No abstract availableKeywords
Funding Information
- Japan Society for the Promotion of Science (17K10069)
- Japan Agency for Medical Research and Development (18kk02050h0003)
This publication has 7 references indexed in Scilit:
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- MED12 related disordersAmerican Journal of Medical Genetics Part A, 2013
- Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutationAmerican Journal of Medical Genetics Part A, 2013
- Mutations in MED12 Cause X-Linked Ohdo SyndromeThe American Journal of Human Genetics, 2013