19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia‐clefting syndrome phenotype

We report a patient who was followed for a long time under an ectrodactyly ectodermal dysplasia‐clefting (EEC) syndrome and was subsequently diagnosed with a 19q13.11 microdeletion. After a review of the related literature, we suggest testing patients with EEC for 19q13.11 microdeletion and include...

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Autores principales: Abe, Kikue Terada, Rizzo, Isabela M. P. O., Coelho, Ana L. V., Sakai, Nilo, Carvalho, Daniel R., Speck‐Martins, Carlos E.
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/PMC6028370/
https://www.ncbi.nlm.nih.gov/pubmed/29988626
http://dx.doi.org/10.1002/ccr3.1600
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author Abe, Kikue Terada
Rizzo, Isabela M. P. O.
Coelho, Ana L. V.
Sakai, Nilo
Carvalho, Daniel R.
Speck‐Martins, Carlos E.
author_facet Abe, Kikue Terada
Rizzo, Isabela M. P. O.
Coelho, Ana L. V.
Sakai, Nilo
Carvalho, Daniel R.
Speck‐Martins, Carlos E.
author_sort Abe, Kikue Terada
collection PubMed
description We report a patient who was followed for a long time under an ectrodactyly ectodermal dysplasia‐clefting (EEC) syndrome and was subsequently diagnosed with a 19q13.11 microdeletion. After a review of the related literature, we suggest testing patients with EEC for 19q13.11 microdeletion and include WTIP and UBA2 to a minimal overlapping region.
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spelling pubmed-60283702018-07-09 19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia‐clefting syndrome phenotype Abe, Kikue Terada Rizzo, Isabela M. P. O. Coelho, Ana L. V. Sakai, Nilo Carvalho, Daniel R. Speck‐Martins, Carlos E. Clin Case Rep Case Reports We report a patient who was followed for a long time under an ectrodactyly ectodermal dysplasia‐clefting (EEC) syndrome and was subsequently diagnosed with a 19q13.11 microdeletion. After a review of the related literature, we suggest testing patients with EEC for 19q13.11 microdeletion and include WTIP and UBA2 to a minimal overlapping region. John Wiley and Sons Inc. 2018-05-28 /pmc/articles/PMC6028370/ /pubmed/29988626 http://dx.doi.org/10.1002/ccr3.1600 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
Abe, Kikue Terada
Rizzo, Isabela M. P. O.
Coelho, Ana L. V.
Sakai, Nilo
Carvalho, Daniel R.
Speck‐Martins, Carlos E.
19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia‐clefting syndrome phenotype
title 19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia‐clefting syndrome phenotype
title_full 19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia‐clefting syndrome phenotype
title_fullStr 19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia‐clefting syndrome phenotype
title_full_unstemmed 19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia‐clefting syndrome phenotype
title_short 19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia‐clefting syndrome phenotype
title_sort 19q13.11 microdeletion: clinical features overlapping ectrodactyly ectodermal dysplasia‐clefting syndrome phenotype
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028370/
https://www.ncbi.nlm.nih.gov/pubmed/29988626
http://dx.doi.org/10.1002/ccr3.1600
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