Macroglossia
What's New
Last Posted: Mar 03, 2023
- Obstructive Sleep Apnea in Children With Beckwith-Wiedemann Syndrome.
Cielo Christopher M, et al. Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine 2019 0 (3) 375-381 - Orodental, Facial and Clinical Features of Mutation-Positive Noonan Syndrome: A Monocentric Study.
Gürsoy Semra, et al. The Journal of clinical pediatric dentistry 2020 0 (4) 262-267 - Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants.
Cardoso Leila Cabral de Almeida, et al. Cancers 2022 0 (15) - Prevalence of tongue lesions among Turkish schoolchildren.
Ugar-Cankal Dilek, et al. Saudi medical journal 2005 0 (12) 1962-7 - Deciphering Epigenetic Backgrounds in a Korean Cohort with Beckwith-Wiedemann Syndrome.
Kim Hwa Young, et al. Annals of laboratory medicine 2022 11 (6) 668-677 - 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 - Macroglossia
From NCATS Genetic and Rare Diseases Information Center
About Rare Diseases PHGKB
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
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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