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1.
Expanding phenotype of FAM111B-related disease focusing on liver involvement: Literature review, report of a case with end-stage liver disease and proposal for a new acronym.
Am J Med Genet A
; 188(10): 2920-2931, 2022 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-35869874
2.
A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report.
Orphanet J Rare Dis
; 17(1): 235, 2022 06 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-35717370
3.
Commentary: Case report: Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) presenting with liver cirrhosis and steroid-responsive interstitial pneumonia.
Front Genet
; 14: 1255807, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-38188503
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