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.
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.
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.
Autosomal recessive osteopetrosis.
Mahdi AH.
Ann Saudi Med. 1994 Mar;14(2):102-6. doi: 10.5144/0256-4947.1994.102.
CLCN7-Related Osteopetrosis.
Sobacchi C, Villa A, Schulz A, Kornak U.
2007 Feb 12 [updated 2022 Jan 20]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
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.
Osteopetrosis.
Kocher MS, Kasser JR.
Am J Orthop (Belle Mead NJ). 2003 May;32(5):222-8.
Osteopetrosis.
Stark Z, Savarirayan R.
Orphanet J Rare Dis. 2009 Feb 20;4:5. doi: 10.1186/1750-1172-4-5.
Developmental origin, functional maintenance and genetic rescue of osteoclasts.
Jacome-Galarza CE, Percin GI, Muller JT, Mass E, Lazarov T, Eitler J, Rauner M, Yadav VK, Crozet L, Bohm M, Loyher PL, Karsenty G, Waskow C, Geissmann F.
Nature. 2019 Apr;568(7753):541-545. doi: 10.1038/s41586-019-1105-7. Epub 2019 Apr 10.
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.
