Lack of resemblance between Myhre syndrome and other "segmental progeroid" syndromes warrants restraint in applying this classification.
作者信息
Lin Angela E, Brunetti-Pierri Nicola, Callewaert Bert, Cormier-Daire Valérie, Douzgou Sofia, Kinane T Bernard, Lindsay Mark E, Starr Lois J
机构信息
Medical Genetics, Department of Pediatrics, Massachusetts General Hospital for Children, Boston, MA, USA.
Department of Translational Medicine, Federico II University of Naples, Naples, Italy.
出版信息
Geroscience. 2021 Apr;43(2):459-461. doi: 10.1007/s11357-021-00337-x. Epub 2021 Feb 25.
Abstract
摘要
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Lack of resemblance between Myhre syndrome and other "segmental progeroid" syndromes warrants restraint in applying this classification.
Geroscience. 2021 Apr;43(2):459-461. doi: 10.1007/s11357-021-00337-x. Epub 2021 Feb 25.
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Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome.
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Myhre and LAPS syndromes: clinical and molecular review of 32 patients.
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