Síndrome de Hajdu-Cheney (Galician Wikipedia)

Analysis of information sources in references of the Wikipedia article "Síndrome de Hajdu-Cheney" in Galician language version.

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nature.com

A Simpson, Michael; Irving, Melita D; Asilmaz, Esra; Gray, Mary J; Dafou, Dimitra; Elmslie, Frances V; Mansour, Sahar; Holder, Sue E et al. (2011) "Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss". Nature Genetics 43 (4): 303–305.
sidor, Bertrand; Pierre Lindenbaum (2011). Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

Brennan AM, Pauli RM (May 2001). "Hajdu--Cheney syndrome: evolution of phenotype and clinical problems". Am. J. Med. Genet. 100 (4): 292–310. doi: 10.1002/1096-8628(20010515)100:4<292::AID-AJMG1308>3.0.CO;2-4
Crifasi, P. A.; Patterson, M. C.; Bonde, D.; Michels, V. V. (Jun 1997). "Severe Hajdu-Cheney syndrome with upper airway obstruction". American Journal of Medical Genetics 70 (3): 261–266. doi: 10.1002/(SICI)1096-8628(19970613)70:3<261::AID-AJMG9>3.0.CO;2-Z
Majewski, J; Schwartzentruber, Jeremy A.; Caqueret, Aurore; Patry, Lysanne; Marcadier, Janet; Fryns, Jean-Pierre; Boycott, Kym M.; Ste-Marie, Louis-Georges et al. (2011). "Mutations in NOTCH2 in families with Hajdu-Cheney syndrome". Hum Mutat 32 (10): 1114–7. doi:10.1002/humu.21546