Last Posted: May 07, 2020
- Clinical and molecular features of children with Beckwith-Wiedemann syndrome in China: a single-center retrospective cohort study.
Wang Ruixue et al. Italian journal of pediatrics 2020 Apr 46(1) 55
- Diagnosis and Management of Beckwith-Wiedemann Syndrome.
Wang Kathleen H et al. Frontiers in pediatrics 2019 7562
- CLINGEN Actionability Report for Glycogen Storage Disease 2 - GAA
ClinGen Actionability Working Group
- [Beckwith-Wiedemann Syndrome (BWS) Current Status of Diagnosis and Clinical Management: Summary of the First International Consensus Statement].
Elbracht Miriam et al. Klinische Padiatrie 2018 Apr
- Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
Brioude Frédéric et al. Nature reviews. Endocrinology 2018 Jan
From NCATS Genetic and Rare Diseases Information Center
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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