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Year | Number of Results |
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2008 | 1 |
2009 | 1 |
2010 | 1 |
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Infantile malignant, autosomal recessive osteopetrosis: the rich and the poor.
Calcif Tissue Int. 2009 Jan;84(1):1-12. doi: 10.1007/s00223-008-9196-4. Epub 2008 Dec 12.
Calcif Tissue Int. 2009.
PMID: 19082854
Review.
Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations.
Pangrazio A, Pusch M, Caldana E, Frattini A, Lanino E, Tamhankar PM, Phadke S, Lopez AG, Orchard P, Mihci E, Abinun M, Wright M, Vettenranta K, Bariae I, Melis D, Tezcan I, Baumann C, Locatelli F, Zecca M, Horwitz E, Mansour LS, Van Roij M, Vezzoni P, Villa A, Sobacchi C.
Pangrazio A, et al.
Hum Mutat. 2010 Jan;31(1):E1071-80. doi: 10.1002/humu.21167.
Hum Mutat. 2010.
PMID: 19953639
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Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21-22.1 locus.
Prontera P, Rogaia D, Sobacchi C, Tavares VL, Mazzotta G, Passos-Bueno MR, Donti E.
Prontera P, et al.
Am J Med Genet A. 2011 May;155A(5):1106-8. doi: 10.1002/ajmg.a.33826. Epub 2011 Apr 4.
Am J Med Genet A. 2011.
PMID: 21465646
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