关键词: 11p15.5 Beckwith-Wiedemann syndrome Costello syndrome HRAS mutation imprinting loss of heterozygosity neonatal hyperinsulinemic hypoglycemia p.Q22K
Mesh : Amino Acid Substitution Base Sequence Beckwith-Wiedemann Syndrome / diagnosis genetics pathology Chromosomes, Human, Pair 11 / chemistry Clone Cells Congenital Hyperinsulinism / diagnosis genetics pathology Costello Syndrome / diagnosis genetics pathology Fatal Outcome Genomic Imprinting Humans Hypoglycemia / diagnosis genetics pathology Infant Inheritance Patterns Insulin-Like Growth Factor II / genetics Loss of Heterozygosity Male Molecular Sequence Data Pancreas / metabolism pathology Proto-Oncogene Proteins p21(ras) / genetics Uniparental Disomy / diagnosis genetics pathology
来 源:
DOI:10.1002/ajmg.a.37471
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