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Beckwith–Wiedemann syndrome (/ ˈ b ɛ k ˌ w ɪ θ ˈ v iː d ə. m ə n /; abbreviated BWS) is an overgrowth disorder usually present at birth, characterized by an increased risk of childhood cancer and certain congenital features. A minority (<15%) of cases of BWS are familial, meaning that a close relative may also have BWS, and parents ...
John Bruce Beckwith (September 18, 1933 – January 21, 2025) was an American pediatric pathologist known for helping to identify Beckwith-Wiedemann syndrome, which is partly named after him. He is also known for his role as reference pathologist for the National Wilms Tumor Study Group , a position he held from 1969 until his retirement thirty ...
Cyclin-dependent kinase inhibitor 1C is a tight-binding inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cell proliferation. Mutations of CDKN1C are implicated in sporadic cancers and Beckwith-Wiedemann syndrome suggesting that it is a tumor suppressor candidate. [5]
Beckwith-Wiedemann syndrome (BWS), an overgrowth syndrome is a well-recognized form of syndromic HI. Other syndromes that commonly feature HI include Kabuki syndrome and Turner syndrome . Most individuals with syndromic HI respond to treatment with diazoxide and HI may resolve over time.
Ideal sources for Wikipedia's health content are defined in the guideline Wikipedia:Identifying reliable sources (medicine) and are typically review articles. Here are links to possibly useful sources of information about Beckwith–Wiedemann syndrome. PubMed provides review articles from the past five years (limit to free review articles)
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283120 n/a Ensembl ENSG00000130600 ENSG00000288237 n/a UniProt n a n/a RefSeq (mRNA) n/a n/a RefSeq (protein) n/a n/a Location (UCSC) Chr 11: 2 – 2 Mb n/a PubMed search n/a Wikidata View/Edit Human H19 is a gene for a long noncoding RNA, found in humans and elsewhere. H19 has a role in the negative regulation (or limiting) of body weight and cell proliferation. This gene also has a role in ...