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autosomal recessive osteopetrosis相关文献:
Phenotype-autosomal recessive osteopetrosis.
Pillai NR, Aggarwal A, Orchard P.
Bone. 2022 Dec;165:116577. doi: 10.1016/j.bone.2022.116577. Epub 2022 Oct 3.
PMID:36195244
Autosomal recessive osteopetrosis: mechanisms and treatments.
Penna S, Villa A, Capo V.
Dis Model Mech. 2021 May 1;14(5):dmm048940. doi: 10.1242/dmm.048940. Epub 2021 May 10.
PMID:33970241
Osteopetrosis.
Stark Z, Savarirayan R.
Orphanet J Rare Dis. 2009 Feb 20;4:5. doi: 10.1186/1750-1172-4-5.
PMID:19232111
Autosomal recessive osteopetrosis: diagnosis, management, and outcome.
Wilson CJ, Vellodi A.
Arch Dis Child. 2000 Nov;83(5):449-52. doi: 10.1136/adc.83.5.449.
PMID:11040159
Autosomal recessive osteopetrosis.
Mahdi AH.
Ann Saudi Med. 1994 Mar;14(2):102-6. doi: 10.5144/0256-4947.1994.102.
PMID:17589071
Intermediate Autosomal Recessive Osteopetrosis With an Unusual Absence of Fractures.
Ishaque A, Farid E, Nasir S, Qadar LT, Jamal A.
Ochsner J. 2022 Winter;22(4):366-371. doi: 10.31486/toj.22.0018.
PMID:36561103
CLCN7, a gene shared by autosomal recessive and autosomal dominant osteopetrosis.
Stauber T, Wartosch L, Vishnolia S, Schulz A, Kornak U.
Bone. 2023 Mar;168:116639. doi: 10.1016/j.bone.2022.116639. Epub 2022 Dec 10.
PMID:36513280
Infantile malignant, autosomal recessive osteopetrosis: the rich and the poor.
Villa A, Guerrini MM, Cassani B, Pangrazio A, Sobacchi C.
Calcif Tissue Int. 2009 Jan;84(1):1-12. doi: 10.1007/s00223-008-9196-4. Epub 2008 Dec 12.
PMID:19082854
Autosomal recessive osteopetrosis with a unique imaging finding: multiple encephaloceles.
Sağlam D, Bilgici MC, Bekçi T, Albayrak C, Albayrak D.
Skeletal Radiol. 2017 May;46(5):701-704. doi: 10.1007/s00256-017-2595-8. Epub 2017 Feb 23.
PMID:28233026
CLCN7-Related Osteopetrosis.
Sobacchi C, Villa A, Schulz A, Kornak U.
2007 Feb 12 [updated 2022 Jan 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
PMID:20301306
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