A case of pulmonary alveolar microlithiasis associated with a homozygous 195 kb deletion encompassing the entire SLC34A2 gene

With around 500 cases published worldwide, pulmonary alveolar microlithiasis is a rare disorder with an autosomal recessive pattern of inheritance. We show for the first time that homozygous deletions encompassing the entire SCL34A2 can be associated with this rare genetic pulmonary disease.

Detalles Bibliográficos
Autores principales: Stokman, Lara, Nossent, Esther J., Grunberg, Katrien, Meijboom, Lilian, Yakicier, Mustafa C., Voorhoeve, Els, Houweling, Arjan C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4831397/
https://www.ncbi.nlm.nih.gov/pubmed/27099741
http://dx.doi.org/10.1002/ccr3.532
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author Stokman, Lara
Nossent, Esther J.
Grunberg, Katrien
Meijboom, Lilian
Yakicier, Mustafa C.
Voorhoeve, Els
Houweling, Arjan C.
author_facet Stokman, Lara
Nossent, Esther J.
Grunberg, Katrien
Meijboom, Lilian
Yakicier, Mustafa C.
Voorhoeve, Els
Houweling, Arjan C.
author_sort Stokman, Lara
collection PubMed
description With around 500 cases published worldwide, pulmonary alveolar microlithiasis is a rare disorder with an autosomal recessive pattern of inheritance. We show for the first time that homozygous deletions encompassing the entire SCL34A2 can be associated with this rare genetic pulmonary disease.
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spelling pubmed-48313972016-04-20 A case of pulmonary alveolar microlithiasis associated with a homozygous 195 kb deletion encompassing the entire SLC34A2 gene Stokman, Lara Nossent, Esther J. Grunberg, Katrien Meijboom, Lilian Yakicier, Mustafa C. Voorhoeve, Els Houweling, Arjan C. Clin Case Rep Case Reports With around 500 cases published worldwide, pulmonary alveolar microlithiasis is a rare disorder with an autosomal recessive pattern of inheritance. We show for the first time that homozygous deletions encompassing the entire SCL34A2 can be associated with this rare genetic pulmonary disease. John Wiley and Sons Inc. 2016-03-11 /pmc/articles/PMC4831397/ /pubmed/27099741 http://dx.doi.org/10.1002/ccr3.532 Text en © 2016 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‐NoDerivs (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
Stokman, Lara
Nossent, Esther J.
Grunberg, Katrien
Meijboom, Lilian
Yakicier, Mustafa C.
Voorhoeve, Els
Houweling, Arjan C.
A case of pulmonary alveolar microlithiasis associated with a homozygous 195 kb deletion encompassing the entire SLC34A2 gene
title A case of pulmonary alveolar microlithiasis associated with a homozygous 195 kb deletion encompassing the entire SLC34A2 gene
title_full A case of pulmonary alveolar microlithiasis associated with a homozygous 195 kb deletion encompassing the entire SLC34A2 gene
title_fullStr A case of pulmonary alveolar microlithiasis associated with a homozygous 195 kb deletion encompassing the entire SLC34A2 gene
title_full_unstemmed A case of pulmonary alveolar microlithiasis associated with a homozygous 195 kb deletion encompassing the entire SLC34A2 gene
title_short A case of pulmonary alveolar microlithiasis associated with a homozygous 195 kb deletion encompassing the entire SLC34A2 gene
title_sort case of pulmonary alveolar microlithiasis associated with a homozygous 195 kb deletion encompassing the entire slc34a2 gene
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4831397/
https://www.ncbi.nlm.nih.gov/pubmed/27099741
http://dx.doi.org/10.1002/ccr3.532
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