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References
1.
Boerkoel
CF
Takashima
H
: Mutant chromatin remodeling protein S-MARCAL1 causes Schimke immuno-osseous dysplasia . Nat Genet 30 : 215 –220 , 2002 .
2.
Saraiva
JM
Dinis
A
: Schimke immuno-osseous dysplasia: case report and review of 25 patients . J Med Genet 36 : 786 –789 , 1999 .
3.
Schimke
RN
Horton
WA
King
CR
: Chondroitin-6-sulphaturia, defective cellular immunity, and nephrotic syndrome . Lancet 13 (2 ): 1088 –1089 , 1971 .
4.
Schimke
RN
Horton
WA
: Chondroitin-6-sulfate mucopoly-saccharidosis in conjunction with lymphopenia, defective cellular immunity and the nephrotic syndrome . Birth Defects Orig Artic Ser 10 : 258 –266 , 1974 .
5.
Rodrigo
F
Ferrer-Canabate
J
: Clinical quiz. Schimke immunoosseous dysplasia syndrome (SIOD) . Pediatr Nephrol 16 : 606 –608 , 2001 .
6.
Boerkoel
CF
O'Neill
S
: Manifestations and treatment of Schimke immuno-osseous dysplasia. 14 new cases and a review of the literature . Eur J Pediatr 159 : 1 –7 , 2000 .
7.
Boerkoel
CF
Nowaczyk
MJ
: Schimke immunoosseous dysplasia complicated by moyamoya phenomenon . Am J Med Genet 78 : 118 –122 , 1998 .
8.
Sigurdardottir
S
Myers
SM
: Mental retardation and seizure disorder in Schimke immunoosseous dysplasia . Am J Med Genet 14 (90 ): 294 –298 , 2000 .
9.
Spranger
J
Hinkel
GK
: Schimke immuno-osseous dysplasia: a newly recognized multisystem disease . J Pediatr 119 : 64 –72 , 1991 .
10.
Schmidt
B
Christen
HJ
: Cerebral complications in Schimke immuno-osseous dysplasia . Eur J Pediatr 156 : 789 –791 , 1997 .
11.
Dhillon
AS
Chapman
S
Milford
DV
: Cerebellar defect associated with Schimke immuno-osseous dysplasia . Eur J Pediatr 160 : 372 –374 , 2001 .