13 research outputs found
Multifocal aplasia cutis congenita, distal limb hemimelia, and cutis marmorata telangiectatica in a patient with Adams–Oliver syndrome
No full textA microdeletion syndrome due to a 3-Mb deletion on 19q13.2 - Diamond-Blackfan anemia associated with macrocephaly, hypotonia, and psychomotor retardation
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