Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome.

Geoffron, Sophie

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