18 research outputs found
Unknown syndrome: Noonan-like craniofacial features, digital anomalies, and premature birth.
No full textDefective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers-Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (β4GalT-7)
No full text10.1007/s00109-006-0046-4Journal of Molecular Medicine847583-594JMLM
Unknown syndrome: mental retardation with dysmorphic features, early balding, patella luxations, acromicria, and hypogonadism
No full text
