A case of pulmonary alveolar microlithiasis associated with a homozygous 195 kb deletion encompassing the entire SLC34A2 gene
A case of pulmonary alveolar microlithiasis associated with a homozygous 195 kb deletion encompassing the entire SLC34A2 gene
Tarih
2016-01-01
Yazarlar
Stokman, Lara
Nossent, Esther J.
Grunberg, Katrien
Meijboom, Lilian
Yakicier, Mustafa C.
Voorhoeve, Els
Houweling, Arjan C.
Süreli Yayın başlığı
Süreli Yayın ISSN
Cilt Başlığı
Yayınevi
WILEY
Dergi Adı
CLINICAL CASE REPORTS
Özet
Key Clinical Message 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.
Açıklama
Anahtar kelimeler
Homozygous whole gene deletion, pulmonary alveolar microlithiasis, SLC34A2, SNP array