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Academic Journal

New insights in the genetic variant spectrum of SLC34A2 in pulmonary alveolar microlithiasis; a systematic review.

  • Authors : Jönsson ÅLM; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark. .; Department of Biomedicine, Aarhus University, Aarhus, Denmark. .

Subjects: Lung Diseases*/Lung Diseases*/Lung Diseases*/genetics ; Calcinosis*/Calcinosis*/Calcinosis*/genetics ; Genetic Diseases, Inborn*/Genetic Diseases, Inborn*/Genetic Diseases, Inborn*/genetics Pulmonary Alveolar Microlithiasis

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 May 31; Vol. 18 (1), pp. 130. Date of Electronic Publication: 2023 May 31.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Academic Journal

Birt-Hogg-Dubé syndrome encountered at rare lung disease clinic in Anhui province, China.

  • Authors : Zhang G; Department of Pulmonary and Critical Care Medicine, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, Anhui, 230001, China.; WanNan Medical College, Wuhu, Anhui, China.

Subjects: Angiomyolipoma* ; Birt-Hogg-Dube Syndrome*/Birt-Hogg-Dube Syndrome*/Birt-Hogg-Dube Syndrome*/diagnosis ; Birt-Hogg-Dube Syndrome*/Birt-Hogg-Dube Syndrome*/Birt-Hogg-Dube Syndrome*/genetics

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 May 16; Vol. 17 (1), pp. 203. Date of Electronic Publication: 2022 May 16.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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