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5 in total

1. The virulence gene and clinical phenotypes of osteopetrosis in the Chinese population: six novel mutations of the CLCN7 gene in twelve osteopetrosis families.

Authors: Chun Wang; Hao Zhang; Jin-Wei He; Jie-Mei Gu; Wei-Wei Hu; Yun-Qiu Hu; Miao Li; Yu-Juan Liu; Wen-Zhen Fu; Hua Yue; Yao-Hua Ke; Zhen-Lin Zhang
Journal: J Bone Miner Metab Date: 2011-09-28 Impact factor: 2.626

2. Endoscopic third ventriculostomy for the treatment of osteopetrosis-related hydrocephalus: a case-based update.

Authors: Bhoresh Dhamija; Benedetta Ludovica Pettorini; Guirish Solanki
Journal: Childs Nerv Syst Date: 2011-05-07 Impact factor: 1.475

3. Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect.

Authors: Elena A Bliznetz; Svetlana M Tverskaya; Rena A Zinchenko; Anna V Abrukova; Ekaterina N Savaskina; Maxim V Nikulin; Alexander G Kirillov; Evgeny K Ginter; Alexander V Polyakov
Journal: Eur J Hum Genet Date: 2009-01-28 Impact factor: 4.246

4. A novel CLCN7 mutation resulting in a most severe form of autosomal recessive osteopetrosis.

Authors: Nesrin Besbas; Markus Draaken; Michael Ludwig; Ozgur Deren; Diclehan Orhan; Yelda Bilginer; Fatih Ozaltin
Journal: Eur J Pediatr Date: 2009-02-24 Impact factor: 3.183

5. A Case of Autosomal Dominant Osteopetrosis Type 2 with a CLCN7 Gene Mutation

Authors: Sol Kang; Young Kyung Kang; Jun Ah Lee; Dong Ho Kim; Jung Sub Lim
Journal: J Clin Res Pediatr Endocrinol Date: 2019-02-14

5 in total