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Lin, Angel

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Item Type	Name
Concept	Cryptorchidism
Academic Article	Myhre and LAPS syndromes: clinical and molecular review of 32 patients.
Academic Article	Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.
Academic Article	Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects.
Academic Article	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.
Academic Article	Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome.
Academic Article	Lack of resemblance between Myhre syndrome and other "segmental progeroid" syndromes warrants restraint in applying this classification.

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Cryptorchidism

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