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Table 1 General information

From: Haploidentical haematopoietic stem cell transplantation for malignant infantile osteopetrosis and intermediate osteopetrosis: a retrospective analysis of a single centre

Total patients

27

Sex (%)

 

 Male

18 (66.7)

 Female

9 (33.3)

Age at transplant (median)

12 months (range: 4–107 months)

Gene (%)

 

 TCIRG1 compound heterozygous mutation

18 (66.7)

 CLCN7 compound heterozygous mutation

2 (7.4)

 CLCN7 heterozygous mutation

4 (14.8)

Visual impairment

26/27

Hearing impairment

5/27

Splenomegaly

23/27

Abnormal haemogram

27/27