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    • FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development 

      Unger, Sheila; Górna, María W.; Le Béchec, Antony; Vale-Pereira, Sonia Do; Bedeschi, Maria Francesca; Geiberger, Stefan; Grigelioniene, Giedre; Horemuzova, Eva; Lalatta, Faustina; Lausch, Ekkehart; Magnani, Cinzia; Nampoothiri, Sheela; Nishimura, Gen; Petrella, Duccio; Rojas Ringeling, Francisca; Utsunomiya, Akari; Zabel, Bernhard; Pradervand, Sylvain; Harshman, Keith; Campos-Xavier, Belinda; Bonafé, Luisa; Superti-Furga, Giulio; Stevenson, Brian; Superti-Furga, Andrea (The American Society of Human Genetics, 2013)
      Kenny-Caffey syndrome (KCS) and the similar but more severe osteocraniostenosis (OCS) are genetic conditions characterized by impaired skeletal development with small and dense bones, short stature, and primary ...