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1.
Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023).
Am J Med Genet A
; : e63638, 2024 May 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-38779990
2.
An additional patient with SMAD4-Juvenile Polyposis-Hereditary hemorrhagic telangiectasia and connective tissue abnormalities: SMAD4 loss-of-function and gain-of-function pathogenic variants result in contrasting phenotypes.
Am J Med Genet A
; 188(10): 3084-3088, 2022 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-35869926
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