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


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Stokman L., Nossent E. J. , Grunberg K., Meijboom L., YAKICIER M. C. , Voorhoeve E., et al.

CLINICAL CASE REPORTS, cilt.4, ss.412-415, 2016 (ESCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 4 Konu: 4
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1002/ccr3.532
  • Dergi Adı: CLINICAL CASE REPORTS
  • Sayfa Sayısı: ss.412-415

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.