Roberta Shear
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View article: Dyssegmental dysplasia, Silverman‐Handmaker type: A challenging antenatal diagnosis in a dizygotic twin pregnancy
Dyssegmental dysplasia, Silverman‐Handmaker type: A challenging antenatal diagnosis in a dizygotic twin pregnancy Open
Background Dyssegmental dysplasia Silverman‐Handmaker ( DDSH ; MIM 224410) type is an extremely rare skeletal dysplasia caused by functional null mutations in the perlecan gene. Less than forty cases are reported in the literature, of whic…
View article: Pregnancy as a Possible Trigger for Heritable Pulmonary Arterial Hypertension
Pregnancy as a Possible Trigger for Heritable Pulmonary Arterial Hypertension Open
It is unclear whether pregnancy is a trigger or accelerant for idiopathic pulmonary arterial hypertension (PAH). Alternatively, its frequency close to the onset of symptoms and diagnosis in the idiopathic PAH population may represent a coi…