Matches in Nanopublications for { ?s ?p "[Mandibuloacral dysplasia (MAD; OMIM 248370) is a rare, genetically and phenotypically heterogeneous, autosomal recessive disorder characterized by skeletal abnormalities including hypoplasia of the mandible and clavicles, acro-osteolysis, cutaneous atrophy and lipodystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP364486.RA5YYtqY6qL-QckPFeYBPFTN60-r_hIS4IG4_xN9BoKZA130_assertion description "[Mandibuloacral dysplasia (MAD; OMIM 248370) is a rare, genetically and phenotypically heterogeneous, autosomal recessive disorder characterized by skeletal abnormalities including hypoplasia of the mandible and clavicles, acro-osteolysis, cutaneous atrophy and lipodystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP364486.RA5YYtqY6qL-QckPFeYBPFTN60-r_hIS4IG4_xN9BoKZA130_provenance.
- NP177921.RAiKmGuvGBuOy9ht6peq4dK1Fqx7PN_OEIn2PkBPChnfA130_assertion description "[Mandibuloacral dysplasia (MAD; OMIM 248370) is a rare, genetically and phenotypically heterogeneous, autosomal recessive disorder characterized by skeletal abnormalities including hypoplasia of the mandible and clavicles, acro-osteolysis, cutaneous atrophy and lipodystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP177921.RAiKmGuvGBuOy9ht6peq4dK1Fqx7PN_OEIn2PkBPChnfA130_provenance.
- NP349901.RAGlNaRKF1vcam0zNbEa5m2mCwoYM8gVIGUawkOiJoN9g130_assertion description "[Mandibuloacral dysplasia (MAD; OMIM 248370) is a rare, genetically and phenotypically heterogeneous, autosomal recessive disorder characterized by skeletal abnormalities including hypoplasia of the mandible and clavicles, acro-osteolysis, cutaneous atrophy and lipodystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP349901.RAGlNaRKF1vcam0zNbEa5m2mCwoYM8gVIGUawkOiJoN9g130_provenance.
- NP636173.RA6xszQWaViFvVGk8LaUbRH01UIP5Yu92OWcYB0uz5PQM130_assertion description "[Mandibuloacral dysplasia (MAD; OMIM 248370) is a rare, genetically and phenotypically heterogeneous, autosomal recessive disorder characterized by skeletal abnormalities including hypoplasia of the mandible and clavicles, acro-osteolysis, cutaneous atrophy and lipodystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP636173.RA6xszQWaViFvVGk8LaUbRH01UIP5Yu92OWcYB0uz5PQM130_provenance.