Inheritance of a paternal ABCC8 variant and maternal loss of heterozygosity at 11p15 retrospectively unmasks the etiology in a case of Congenital hyperinsulinism

Advances in genomics and (18)F‐DOPA PET‐CT imaging have transformed the management of infants with Congenital Hyperinsulinism. Preoperative diagnosis of focal hyperinsulinism permits limited pancreatectomy with improved clinical outcomes while knowledge of the molecular etiology informs genetic coun...

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Detalles Bibliográficos
Autores principales: Joyce, Caroline M., Houghton, Jayne A., O’Halloran, Domhnall J., O’Shea, Paula M., O’Connell, Susan M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7364106/
https://www.ncbi.nlm.nih.gov/pubmed/32695361
http://dx.doi.org/10.1002/ccr3.2885
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author Joyce, Caroline M.
Houghton, Jayne A.
O’Halloran, Domhnall J.
O’Shea, Paula M.
O’Connell, Susan M.
author_facet Joyce, Caroline M.
Houghton, Jayne A.
O’Halloran, Domhnall J.
O’Shea, Paula M.
O’Connell, Susan M.
author_sort Joyce, Caroline M.
collection PubMed
description Advances in genomics and (18)F‐DOPA PET‐CT imaging have transformed the management of infants with Congenital Hyperinsulinism. Preoperative diagnosis of focal hyperinsulinism permits limited pancreatectomy with improved clinical outcomes while knowledge of the molecular etiology informs genetic counseling and provides a more accurate recurrence risk to families.
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spelling pubmed-73641062020-07-20 Inheritance of a paternal ABCC8 variant and maternal loss of heterozygosity at 11p15 retrospectively unmasks the etiology in a case of Congenital hyperinsulinism Joyce, Caroline M. Houghton, Jayne A. O’Halloran, Domhnall J. O’Shea, Paula M. O’Connell, Susan M. Clin Case Rep Case Reports Advances in genomics and (18)F‐DOPA PET‐CT imaging have transformed the management of infants with Congenital Hyperinsulinism. Preoperative diagnosis of focal hyperinsulinism permits limited pancreatectomy with improved clinical outcomes while knowledge of the molecular etiology informs genetic counseling and provides a more accurate recurrence risk to families. John Wiley and Sons Inc. 2020-04-23 /pmc/articles/PMC7364106/ /pubmed/32695361 http://dx.doi.org/10.1002/ccr3.2885 Text en © 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Joyce, Caroline M.
Houghton, Jayne A.
O’Halloran, Domhnall J.
O’Shea, Paula M.
O’Connell, Susan M.
Inheritance of a paternal ABCC8 variant and maternal loss of heterozygosity at 11p15 retrospectively unmasks the etiology in a case of Congenital hyperinsulinism
title Inheritance of a paternal ABCC8 variant and maternal loss of heterozygosity at 11p15 retrospectively unmasks the etiology in a case of Congenital hyperinsulinism
title_full Inheritance of a paternal ABCC8 variant and maternal loss of heterozygosity at 11p15 retrospectively unmasks the etiology in a case of Congenital hyperinsulinism
title_fullStr Inheritance of a paternal ABCC8 variant and maternal loss of heterozygosity at 11p15 retrospectively unmasks the etiology in a case of Congenital hyperinsulinism
title_full_unstemmed Inheritance of a paternal ABCC8 variant and maternal loss of heterozygosity at 11p15 retrospectively unmasks the etiology in a case of Congenital hyperinsulinism
title_short Inheritance of a paternal ABCC8 variant and maternal loss of heterozygosity at 11p15 retrospectively unmasks the etiology in a case of Congenital hyperinsulinism
title_sort inheritance of a paternal abcc8 variant and maternal loss of heterozygosity at 11p15 retrospectively unmasks the etiology in a case of congenital hyperinsulinism
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7364106/
https://www.ncbi.nlm.nih.gov/pubmed/32695361
http://dx.doi.org/10.1002/ccr3.2885
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