Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome. [electronic resource]
- The Journal of clinical endocrinology and metabolism 07 2018
- 2436-2446 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1945-7197
10.1210/jc.2017-02152 doi
Adolescent Adult Calcium-Binding Proteins Child Child, Preschool Chromosome Deletion Chromosome Disorders--diagnosis Chromosomes, Human, Pair 14--genetics DNA Methylation--genetics Diagnosis, Differential Female Genomic Imprinting--genetics Humans Intercellular Signaling Peptides and Proteins--genetics Male Membrane Proteins--genetics Phenotype Puberty, Precocious--genetics RNA, Long Noncoding--genetics Retrospective Studies Silver-Russell Syndrome--diagnosis Syndrome Uniparental Disomy Young Adult