Severe phenotype of X‐linked dominant chondrodysplasia punctata

A prenatally ascertained case representing the more severe end of the X‐linked dominant chondrodysplasia punctata (CDPX2).

Detalles Bibliográficos
Autores principales: Damseh, Nadirah, Chong, Karen, Marshall, Christian, Kratz, Lisa, Teitelbaum, Ronni, Shannon, Patrick, Kannu, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5582310/
https://www.ncbi.nlm.nih.gov/pubmed/28878897
http://dx.doi.org/10.1002/ccr3.1008
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author Damseh, Nadirah
Chong, Karen
Marshall, Christian
Kratz, Lisa
Teitelbaum, Ronni
Shannon, Patrick
Kannu, Peter
author_facet Damseh, Nadirah
Chong, Karen
Marshall, Christian
Kratz, Lisa
Teitelbaum, Ronni
Shannon, Patrick
Kannu, Peter
author_sort Damseh, Nadirah
collection PubMed
description A prenatally ascertained case representing the more severe end of the X‐linked dominant chondrodysplasia punctata (CDPX2).
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spelling pubmed-55823102017-09-06 Severe phenotype of X‐linked dominant chondrodysplasia punctata Damseh, Nadirah Chong, Karen Marshall, Christian Kratz, Lisa Teitelbaum, Ronni Shannon, Patrick Kannu, Peter Clin Case Rep Case Reports A prenatally ascertained case representing the more severe end of the X‐linked dominant chondrodysplasia punctata (CDPX2). John Wiley and Sons Inc. 2017-07-20 /pmc/articles/PMC5582310/ /pubmed/28878897 http://dx.doi.org/10.1002/ccr3.1008 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial (http://creativecommons.org/licenses/by-nc/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Case Reports
Damseh, Nadirah
Chong, Karen
Marshall, Christian
Kratz, Lisa
Teitelbaum, Ronni
Shannon, Patrick
Kannu, Peter
Severe phenotype of X‐linked dominant chondrodysplasia punctata
title Severe phenotype of X‐linked dominant chondrodysplasia punctata
title_full Severe phenotype of X‐linked dominant chondrodysplasia punctata
title_fullStr Severe phenotype of X‐linked dominant chondrodysplasia punctata
title_full_unstemmed Severe phenotype of X‐linked dominant chondrodysplasia punctata
title_short Severe phenotype of X‐linked dominant chondrodysplasia punctata
title_sort severe phenotype of x‐linked dominant chondrodysplasia punctata
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5582310/
https://www.ncbi.nlm.nih.gov/pubmed/28878897
http://dx.doi.org/10.1002/ccr3.1008
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