Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4

Lignende værker

• Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems
  af: Williams, Stephen R., et al.
  Udgivet: (2010)
• Classification of inherited brachydactylies.
  af: Goswami, H K, et al.
  Udgivet: (1980)
• Brachydactyly and Mental Retardation: An Albright Hereditary Osteodystrophy–like Syndrome Localized to 2q37
  af: Wilson, L. C., et al.
  Udgivet: (1995)
• Focal Xanthogranulomatous Pyelonephritis in Brachydactyly Mental Retardation Syndrome (2q37 Deletion Syndrome)
  af: Akyol Onder, Esra Nagehan, et al.
  Udgivet: (2020)
• Deletion and Point Mutations of PTHLH Cause Brachydactyly Type E
  af: Klopocki, Eva, et al.
  Udgivet: (2010)