Further Delineation of the Microcephaly-Micromelia Syndrome Associated with Loss-of-Function Variants in DONSON
Author:
Publisher
S. Karger AG
Subject
Genetics(clinical),Genetics
Reference8 articles.
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3. Evrony GD, Cordero DR, Shen J, Partlow JN, Yu TW, et al: Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome. Genome Res 27:1323-1335 (2017).
4. Ives EJ, Houston CS: Autosomal recessive microcephaly and micromelia in Cree Indians. Am J Med Genet 7:351-360 (1980).
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