[Beckwith-Wiedemann syndrome]

Nihon Rinsho. 2006 Sep 28:Suppl 3:587-90.

[Article in Japanese]

Authors

Tomoki Kosho¹, Yoshimitsu Fukushima

Affiliation

¹ Department of Medical Genetics, Shinshu University School of Medicine.

PMID: 17022614

No abstract available

Publication types

Review

MeSH terms

Beckwith-Wiedemann Syndrome* / diagnosis
Beckwith-Wiedemann Syndrome* / genetics
Beckwith-Wiedemann Syndrome* / physiopathology
Beckwith-Wiedemann Syndrome* / therapy
Cyclin-Dependent Kinase Inhibitor p57 / genetics
Diagnosis, Differential
Genes, Dominant
Genetic Counseling
Genomic Imprinting / genetics
Humans
Infant, Newborn
Insulin-Like Growth Factor II
Membrane Proteins / genetics
Neonatal Screening
Potassium Channels, Voltage-Gated / genetics
Prognosis
Proteins / genetics

Substances

CDKN1C protein, human
Cyclin-Dependent Kinase Inhibitor p57
IGF2 protein, human
KCNQ1OT1 long non-coding RNA, human
Membrane Proteins
Potassium Channels, Voltage-Gated
Proteins
Insulin-Like Growth Factor II