Phenotype evolution and health issues of adults with Beckwith‐Wiedemann syndrome
A Gazzin, D Carli, F Sirchia, C Molinatto… - American Journal of …, 2019 - Wiley Online Library
Abstract Background Beckwith‐Wiedemann syndrome (BWS) phenotype usually mitigates
with age and data on adulthood are limited. Our study aims at reporting phenotype evolution …
with age and data on adulthood are limited. Our study aims at reporting phenotype evolution …
Beckwith‐Wiedemann syndrome in adults: Observations from one family and recommendations for care
KJ Greer, SJ Kirkpatrick, R Weksberg… - American Journal of …, 2008 - Wiley Online Library
Literature review and clinical findings in four affected adult males from one family suggest
that there are serious and currently ill‐defined health risks in adults with Beckwith …
that there are serious and currently ill‐defined health risks in adults with Beckwith …
Beckwith–Wiedemann syndrome in diverse populations
KA Duffy, BJ Sajorda, AC Yu… - American journal of …, 2019 - Wiley Online Library
Beckwith–Wiedemann syndrome (BWS) is the most common epigenetic overgrowth disorder
and presents with patients affected by a variety of clinical features. Although genotype …
and presents with patients affected by a variety of clinical features. Although genotype …
Phenotype, cancer risk, and surveillance in Beckwith–Wiedemann syndrome depending on molecular genetic subgroups
SM Maas, F Vansenne, DJM Kadouch… - American journal of …, 2016 - Wiley Online Library
Patients with Beckwith–Wiedemann syndrome (BWS) have an increased risk to develop
cancer in childhood, especially Wilms tumor and hepatoblastoma. The risk varies depending …
cancer in childhood, especially Wilms tumor and hepatoblastoma. The risk varies depending …
Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome
WN Cooper, A Luharia, GA Evans, H Raza… - European journal of …, 2005 - nature.com
Abstract Beckwith–Wiedemann Syndrome (BWS) results from mutations or epigenetic
events involving imprinted genes at 11p15. 5. Most BWS cases are sporadic and uniparental …
events involving imprinted genes at 11p15. 5. Most BWS cases are sporadic and uniparental …
[HTML][HTML] Diagnosis and management of Beckwith-Wiedemann syndrome
KH Wang, J Kupa, KA Duffy, JM Kalish - Frontiers in pediatrics, 2020 - frontiersin.org
Beckwith-Wiedemann syndrome (BWS) is a human genomic imprinting disorder that
presents with a wide spectrum of clinical features including overgrowth, abdominal wall …
presents with a wide spectrum of clinical features including overgrowth, abdominal wall …
[HTML][HTML] Beckwith-wiedemann syndrome
C Shuman, JB Beckwith, R Weksberg - 2016 - europepmc.org
Beckwith-Wiedemann syndrome (BWS) is a growth disorder variably characterized by
neonatal hypoglycemia, macrosomia, macroglossia, hemihyperplasia, omphalocele …
neonatal hypoglycemia, macrosomia, macroglossia, hemihyperplasia, omphalocele …
Clinical and molecular features of children with Beckwith-Wiedemann syndrome in China: a single-center retrospective cohort study
R Wang, Y Xiao, D Li, H Hu, X Li, T Ge, R Yu… - Italian Journal of …, 2020 - Springer
Abstract Background Beckwith-Wiedemann syndrome (BWS) is a genetic overgrowth
disorder with variable clinical features and cancer predisposition. In this study, we aim to …
disorder with variable clinical features and cancer predisposition. In this study, we aim to …
Adult experiences in Beckwith–Wiedemann syndrome
WA Drust, A Mussa, A Gazzin… - American Journal of …, 2023 - Wiley Online Library
Beckwith–Wiedemann syndrome (BWS) is an overgrowth and epigenetic disorder caused
by changes on chromosome 11p15. The primary features requiring management in …
by changes on chromosome 11p15. The primary features requiring management in …
Familial Beckwith‐Wiedemann syndrome in a multigenerational family: Forty years of careful phenotyping
LG Best, KA Duffy, AM George… - American Journal of …, 2023 - Wiley Online Library
Abstract Beckwith‐Wiedemann Spectrum (BWSp) is an overgrowth and cancer
predisposition disorder characterized by a wide spectrum of phenotypic manifestations …
predisposition disorder characterized by a wide spectrum of phenotypic manifestations …
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