Perinatal findings in a patient with a novel large chromosome 19p deletion

We describe the prenatal and postnatal course of an infant with a large 19p deletion. Cases such as ours will improve the knowledge of specific gene functions for every medical specialist. The goal is to allow for a more rapid diagnosis, accurate prognosis and to decrease the likelihood of complicat...

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Detalles Bibliográficos
Autores principales: Culjat, Marko, Razak, Jennifer, Saadeh‐Haddad, Reem, Driggers, Rita, Kamholz, Karen, Timofeev, Julia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6099042/
https://www.ncbi.nlm.nih.gov/pubmed/30147897
http://dx.doi.org/10.1002/ccr3.1615
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author Culjat, Marko
Razak, Jennifer
Saadeh‐Haddad, Reem
Driggers, Rita
Kamholz, Karen
Timofeev, Julia
author_facet Culjat, Marko
Razak, Jennifer
Saadeh‐Haddad, Reem
Driggers, Rita
Kamholz, Karen
Timofeev, Julia
author_sort Culjat, Marko
collection PubMed
description We describe the prenatal and postnatal course of an infant with a large 19p deletion. Cases such as ours will improve the knowledge of specific gene functions for every medical specialist. The goal is to allow for a more rapid diagnosis, accurate prognosis and to decrease the likelihood of complications.
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spelling pubmed-60990422018-08-24 Perinatal findings in a patient with a novel large chromosome 19p deletion Culjat, Marko Razak, Jennifer Saadeh‐Haddad, Reem Driggers, Rita Kamholz, Karen Timofeev, Julia Clin Case Rep Case Reports We describe the prenatal and postnatal course of an infant with a large 19p deletion. Cases such as ours will improve the knowledge of specific gene functions for every medical specialist. The goal is to allow for a more rapid diagnosis, accurate prognosis and to decrease the likelihood of complications. John Wiley and Sons Inc. 2018-06-21 /pmc/articles/PMC6099042/ /pubmed/30147897 http://dx.doi.org/10.1002/ccr3.1615 Text en © 2018 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/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Culjat, Marko
Razak, Jennifer
Saadeh‐Haddad, Reem
Driggers, Rita
Kamholz, Karen
Timofeev, Julia
Perinatal findings in a patient with a novel large chromosome 19p deletion
title Perinatal findings in a patient with a novel large chromosome 19p deletion
title_full Perinatal findings in a patient with a novel large chromosome 19p deletion
title_fullStr Perinatal findings in a patient with a novel large chromosome 19p deletion
title_full_unstemmed Perinatal findings in a patient with a novel large chromosome 19p deletion
title_short Perinatal findings in a patient with a novel large chromosome 19p deletion
title_sort perinatal findings in a patient with a novel large chromosome 19p deletion
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6099042/
https://www.ncbi.nlm.nih.gov/pubmed/30147897
http://dx.doi.org/10.1002/ccr3.1615
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AT saadehhaddadreem perinatalfindingsinapatientwithanovellargechromosome19pdeletion
AT driggersrita perinatalfindingsinapatientwithanovellargechromosome19pdeletion
AT kamholzkaren perinatalfindingsinapatientwithanovellargechromosome19pdeletion
AT timofeevjulia perinatalfindingsinapatientwithanovellargechromosome19pdeletion

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