Review of the Pathologic Characteristics in Myhre Syndrome: Gain-of-Function Pathogenic Variants in SMAD4 cause a Multisystem Fibroproliferative Response,Pediatric and Developmental Pathology

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Review of the Pathologic Characteristics in Myhre Syndrome: Gain-of-Function Pathogenic Variants in SMAD4 cause a Multisystem Fibroproliferative Response
Pediatric and Developmental Pathology ( IF 1.3 ) Pub Date : 2022-09-17 , DOI: 10.1177/10935266221079569
Lois J Starr ₁ , Mark E Lindsay _{2,

3,

4} , Deborah Perry ₅ , Gregory Gheewalla ₆ , Paul A VanderLaan ₇ , Adnan Majid ₈ , Charlie Strange ₉ , George-Claudiu Costea ₁₀ , Adrian Lungu ₁₀ , Angela E Lin ₁₁

Affiliation

Department of Pediatrics, Munroe-Meyer Institute, 12284University of Nebraska Medical Center, Omaha, NE, USA.
Division of Pediatric Cardiology, Department of Pediatrics, Harvard Medical School, 547756MassGeneral Hospital for Children, Boston, MA, USA.
Division of Cardiology, Department of Medicine, Harvard Medical School, Massachusetts General Hospital, Boston, MA, USA.
Cardiovascular Research Center, Department of Medicine, Harvard Medical School, Massachusetts General Hospital, Boston, MA, USA.
Department of Pathology, 6217Methodist Hospital, Omaha, NE, USA.
12261Tufts University School of Medicine, Boston, MA, USA.
Department of Pathology, 1859Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA, USA.
Department of Medicine, 1859Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA, USA.
Division of Pulmonary, Critical Care, Allergy and Sleep Medicine, Department of Medicine, 2345Medical University of South Carolina, Charleston, SC, USA.
Division of Nephrology, Department of Pediatrics, 277067Fundeni Clinical Institute, Bucharest, Romania.
Medical Genetics, Department of Pediatrics, Harvard Medical School, 547756MassGeneral Hospital for Children, Boston, MA, USA.

Background: Myhre syndrome, caused by pathogenic variants in SMAD4, is characterized by compact body habitus with short stature, distinctive craniofacial appearance, stiff skin, cardiovascular abno...

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