Genetic Diagnosis Using Whole Exome Analysis in Two Cases with Malignant Osteopetrosis of Infancy

Demir, Korcan; Karaer, Kadri; Korkmaz, H�seyin An�l; Y�ld�z, Melek; Tun�, Selma; �zkan, Behzat

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Turkish Society for Pediatric Endocrinology and Diabetes

Genetic Diagnosis Using Whole Exome Analysis in Two Cases with Malignant Osteopetrosis of Infancy [J Clin Res Pediatr Endocrinol]

J Clin Res Pediatr Endocrinol. 2015; 7(4): 356-357 | DOI: 10.4274/jcrpe.2597

Genetic Diagnosis Using Whole Exome Analysis in Two Cases with Malignant Osteopetrosis of Infancy

Korcan Demir¹, Kadri Karaer², H�seyin An�l Korkmaz¹, Melek Y�ld�z¹, Selma Tun�¹, Behzat �zkan¹
¹Dr. Beh�et Uz Children�s Hospital, Clinic of Pediatric Endocrinology, �zmir, Turkey
²Intergen Genetics Center, Ankara, Turkey

Keywords: mutation,TCIRG1,CLCN7,osteopetrosis,whole exome analysis

Korcan Demir, Kadri Karaer, H�seyin An�l Korkmaz, Melek Y�ld�z, Selma Tun�, Behzat �zkan. Genetic Diagnosis Using Whole Exome Analysis in Two Cases with Malignant Osteopetrosis of Infancy. J Clin Res Pediatr Endocrinol. 2015; 7(4): 356-357
Manuscript Language: English

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