Williams-Beuren Syndrome with Brain Dysplasia

Williams-Beuren Syndrome with Brain Dysplasia

Investigators from Jichi and Yokohama City Universities, Japan, report a patient with the common Williams-Beuren syndrome (WBS) deletion in 7q11.23 who presented with severe cerebral and cerebellar dysplasia and progressive hypertrophic cardiomyopathy.

Bibliographic Details
Main Author: J Gordon Millichap
Format: Article
Language:English
Published: Pediatric Neurology Briefs Publishers 2013-10-01
Series:Pediatric Neurology Briefs
Subjects:
williams-beuren syndrome
facial characteristics
neurologic symptoms
Online Access:https://www.pediatricneurologybriefs.com/articles/372
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spelling doaj-f040adc6bb514c21aa75818d22b816102020-11-25T00:02:06ZengPediatric Neurology Briefs PublishersPediatric Neurology Briefs1043-31552166-64822013-10-012710787910.15844/pedneurbriefs-27-10-7358Williams-Beuren Syndrome with Brain DysplasiaJ Gordon Millichap0Northwestern University Feinberg School of MedicineInvestigators from Jichi and Yokohama City Universities, Japan, report a patient with the common Williams-Beuren syndrome (WBS) deletion in 7q11.23 who presented with severe cerebral and cerebellar dysplasia and progressive hypertrophic cardiomyopathy.https://www.pediatricneurologybriefs.com/articles/372williams-beuren syndromefacial characteristicsneurologic symptoms
collection DOAJ
language English
format Article
sources DOAJ
author J Gordon Millichap
spellingShingle J Gordon Millichap
Williams-Beuren Syndrome with Brain Dysplasia
Pediatric Neurology Briefs
williams-beuren syndrome
facial characteristics
neurologic symptoms
author_facet J Gordon Millichap
author_sort J Gordon Millichap
title Williams-Beuren Syndrome with Brain Dysplasia
title_short Williams-Beuren Syndrome with Brain Dysplasia
title_full Williams-Beuren Syndrome with Brain Dysplasia
title_fullStr Williams-Beuren Syndrome with Brain Dysplasia
title_full_unstemmed Williams-Beuren Syndrome with Brain Dysplasia
title_sort williams-beuren syndrome with brain dysplasia
publisher Pediatric Neurology Briefs Publishers
series Pediatric Neurology Briefs
issn 1043-3155
2166-6482
publishDate 2013-10-01
description Investigators from Jichi and Yokohama City Universities, Japan, report a patient with the common Williams-Beuren syndrome (WBS) deletion in 7q11.23 who presented with severe cerebral and cerebellar dysplasia and progressive hypertrophic cardiomyopathy.
topic williams-beuren syndrome
facial characteristics
neurologic symptoms
url https://www.pediatricneurologybriefs.com/articles/372
work_keys_str_mv AT jgordonmillichap williamsbeurensyndromewithbraindysplasia
_version_ 1725439527790575616

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