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Title
Holoprosencephaly in Kabuki syndrome
Authors
Keywords
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Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 182, Issue 3, Pages 441-445
Publisher
Wiley
Online
2019-12-17
DOI
10.1002/ajmg.a.61454
References
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Related references
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- Kabuki syndrome: international consensus diagnostic criteria
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- Mutation Update for Kabuki Syndrome GenesKMT2DandKDM6Aand Further Delineation of X-Linked Kabuki Syndrome Subtype 2
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- Kabuki syndrome genesKMT2DandKDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development
- (2015) Peter M. Van Laarhoven et al. HUMAN MOLECULAR GENETICS
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- Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
- (2010) Sarah B Ng et al. NATURE GENETICS
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