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Pulmonary Surfactant Metabolism Dysfunction, Dominant

MedGen UID:
893560
•Concept ID:
CN239333
•
Disease or Syndrome

Recent clinical studies

Etiology

Ultrastructural characterization of genetic diffuse lung diseases in infants and children: a cohort study and review.
Citti A, Peca D, Petrini S, Cutrera R, Biban P, Haass C, Boldrini R, Danhaive O
Ultrastruct Pathol 2013 Oct;37(5):356-65. doi: 10.3109/01913123.2013.811454. PMID: 24047351

Diagnosis

Ultrastructural characterization of genetic diffuse lung diseases in infants and children: a cohort study and review.
Citti A, Peca D, Petrini S, Cutrera R, Biban P, Haass C, Boldrini R, Danhaive O
Ultrastruct Pathol 2013 Oct;37(5):356-65. doi: 10.3109/01913123.2013.811454. PMID: 24047351

Prognosis

High-resolution computed tomography findings of thyroid transcription factor 1 deficiency (NKX2-1 mutations).
LeMoine BD, Browne LP, Liptzin DR, Deterding RR, Galambos C, Weinman JP
Pediatr Radiol 2019 Jun;49(7):869-875. Epub 2019 Mar 30 doi: 10.1007/s00247-019-04388-3. PMID: 30927038

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