FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development

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 hypoparathyroidism with hypocalcemia. We studied five individuals with KCS and five with...

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Main Authors: Unger, Sheila, Górna, Maria W., Le Béchec, Antony, Do Vale-Pereira, Sonia, 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
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2013
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Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3675238/
https://ncbi.nlm.nih.gov/pubmed/23684011
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.04.020
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