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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
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
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
A novel compound heterozygous mutation of the CLCN7 gene is associated with autosomal recessive osteopetrosis.
Wang X, Wang Y, Xu T, Fan Y, Ding Y, Qian J.
Front Pediatr. 2023 Apr 24;11:978879. doi: 10.3389/fped.2023.978879. eCollection 2023.
PMID:37168803
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
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