Nossos Números

Fenótipo

Casos identificados

Maturity-Onset Diabetes of the Young

230

MODY-HNF4A: 3
MODY-GCK: 147
MODY-HNF1A: 39
MODY-PDX1: 3
MODY-HNF1B: 8
MODY-NEUROD1: 1
MODY-CEL: 6
MODY-PAX4: 7
MODY-INS: 1
MODY-ABCC8: 10
MODY-KCNJ11: 5

Lipodistrofias Genéticas

24

AGPAT2: 10
AKT2: 2*
BSCL2: 4
LMNA: 8*
PPARG: 2

Diabetes Mellitus Neonatal

8

ABCC8: 4
FOXP3: 2
KCNJ11: 1
ZFP57: 1

Síndrome de Wolfram

3

WFS1

*Presença de pacientes com alterações digênicas

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