Looking for the hidden mutation: Bannayan–Riley–Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A-Reference-Cited by-同舟云学术

Looking for the hidden mutation: Bannayan–Riley–Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A

Published:2019-05-06 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Golas Monika M.¹^ORCID,Auber Bernd¹^ORCID,Ripperger Tim¹^ORCID,Pabst Brigitte¹,Schmidt Gunnar¹,Morlot Michel²,Diebold Uta³,Steinemann Doris¹,Schlegelberger Brigitte¹,Morlot Susanne¹

Affiliation:

1. Department of Human GeneticsHannover Medical School Hannover Germany

2. Pediatric EndocrinologyEndokrinologikum Hannover Hannover Germany

3. Social Pediatric Center Hannover, Auf der Bult Hannover Germany

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61166

Reference45 articles.

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2. High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome;Aretz S.;Journal of Medical Genetics,2007

3. Mucinous cystadenoma of ovary in a patient with juvenile polyposis due to 10q23 microdeletion: Expansion of phenotype;Babovic N.;American Journal of Medical Genetics. Part A,2010

4. Recurrent 10q22‐q23 deletions: A genomic disorder on 10q associated with cognitive and behavioral abnormalities;Balciuniene J.;American Journal of Human Genetics,2007

5. Lipomatosis, angiomatosis, and macrencephalia. A previously undescribed congenital syndrome;Bannayan G. A.;Archives of Pathology,1971

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