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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease marfan syndrome
Comorbidity C0220704|velocardiofacial syndrome
Sentences 1
PubMedID- 23687502 The girl had abnormal facial features (a beaked nose and long face) with normal chromosomal studies, negative fluorescent in situ hybridization study for velocardiofacial syndrome and an absence of signs suggesting marfan syndrome.

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