Krista A. Geister, et.al., A novel loss-of-function mutation in Npr2 clarifies primary role in female reproduction and reveals a potential therapy for acromesomelic dysplasia, Maroteaux type., Human molecular genetics, 2013, 22

http://rdf.ncbi.nlm.nih.gov/pubmed/23065701

Krista A. Geister, et.al., A novel loss-of-function mutation in Npr2 clarifies primary role in female reproduction and reveals a potential therapy for acromesomelic dysplasia, Maroteaux type., Human molecular genetics, 2013, 22

pubmed

表現型アノテーション

http://purl.org/net/cito/citesAsAuthority

• abnormal cervical atlas morphology_Npr2<pwe>/Npr2<pwe>
  http://metadb.riken.jp/0004607IC3HHeJC57BL6NAWWINpr2pweNpr2pweNpr2pwe
• abnormal long bone hypertrophic chondrocyte zone_Npr2<pwe>/Npr2<pwe>
  http://metadb.riken.jp/0000165IC3HHeJC57BL6NAWWINpr2pweNpr2pweNpr2pwe
• short humerus_Npr2<pwe>/Npr2<pwe>
  http://metadb.riken.jp/0004351IC3HHeJC57BL6NAWWINpr2pweNpr2pweNpr2pwe
• abnormal long bone epiphyseal plate proliferative zone_Npr2<pwe>/Npr2<pwe>
  http://metadb.riken.jp/0003662IC3HHeJC57BL6NAWWINpr2pweNpr2pweNpr2pwe
• malocclusion_Npr2<pwe>/Npr2<pwe>
  http://metadb.riken.jp/0000120IC3HHeJC57BL6NAWWINpr2pweNpr2pweNpr2pwe
• decreased survivor rate_Npr2<pwe>/Npr2<pwe>
  http://metadb.riken.jp/0008770IC3HHeJC57BL6NAWWINpr2pweNpr2pweNpr2pwe
• abnormal oogenesis_Npr2<pwe>/Npr2<pwe>
  http://metadb.riken.jp/0001931IC3HHeJC57BL6NAWWINpr2pweNpr2pweNpr2pwe
• decreased body weight_Npr2<pwe>/Npr2<pwe>
  http://metadb.riken.jp/0001262IC3HHeJC57BL6NAWWINpr2pweNpr2pweNpr2pwe
• postnatal growth retardation_Npr2<pwe>/Npr2<pwe>
  http://metadb.riken.jp/0001732IC3HHeJC57BL6NAWWINpr2pweNpr2pweNpr2pwe
• short femur_Npr2<pwe>/Npr2<pwe>
  http://metadb.riken.jp/0003109IC3HHeJC57BL6NAWWINpr2pweNpr2pweNpr2pwe
• decreased body length_Npr2<pwe>/Npr2<pwe>
  http://metadb.riken.jp/0001258IC3HHeJC57BL6NAWWINpr2pweNpr2pweNpr2pwe
• female infertility_Npr2<pwe>/Npr2<pwe>
  http://metadb.riken.jp/0001926IC3HHeJC57BL6NAWWINpr2pweNpr2pweNpr2pwe
• disproportionate dwarf_Npr2<pwe>/Npr2<pwe>
  http://metadb.riken.jp/0002427IC3HHeJC57BL6NAWWINpr2pweNpr2pweNpr2pwe
• reduced male fertility_Npr2<pwe>/Npr2<pwe>
  http://metadb.riken.jp/0001922IC3HHeJC57BL6NAWWINpr2pweNpr2pweNpr2pwe
• abnormal long bone epiphyseal plate morphology_Npr2<pwe>/Npr2<pwe>
  http://metadb.riken.jp/0003055IC3HHeJC57BL6NAWWINpr2pweNpr2pweNpr2pwe
• domed cranium_Npr2<pwe>/Npr2<pwe>
  http://metadb.riken.jp/0000440IC3HHeJC57BL6NAWWINpr2pweNpr2pweNpr2pwe
• abnormal endochondral bone ossification_Npr2<pwe>/Npr2<pwe>
  http://metadb.riken.jp/0008272IC3HHeJC57BL6NAWWINpr2pweNpr2pweNpr2pwe
• short snout_Npr2<pwe>/Npr2<pwe>
  http://metadb.riken.jp/0000445IC3HHeJC57BL6NAWWINpr2pweNpr2pweNpr2pwe
• delayed vaginal opening_Npr2<pwe>/Npr2<pwe>
  http://metadb.riken.jp/0002636IC3HHeJC57BL6NAWWINpr2pweNpr2pweNpr2pwe