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
Descripción
Sumario: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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