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TurboMice™ - Rare Diseases Matter

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Hypophosphatemic Rickets
What Is Hypophosphatemic Rickets?Hypophosphatemic Rickets (HR) is a rare skeletal disorder with an...
Pulmonary Alveolar Proteinosis
What Is Pulmonary Alveolar Proteinosis?Pulmonary Alveolar Proteinosis (PAP) is a rare heterogeneous...
Phenylketonuria
What Is Phenylketonuria?Phenylketonuria (PKU) is a common autosomal recessive monogenic metabolic...
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Angelman Syndrome
What Is Angelman Syndrome?Angelman Syndrome (AS) is a neurodevelopmental disorder triggered by dysfunction...
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Rett Syndrome
What Is Rett Syndrome?Rett Syndrome (RTT) is a severe neurodevelopmental disorder caused by loss-of-function...
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Fibrodysplasia Ossificans Progressiva
What Is Fibrodysplasia Ossificans Progressiva?Fibrodysplasia Ossificans Progressiva (FOP), also known...
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Paroxysmal Nocturnal Hemoglobinuria
What Is Paroxysmal Nocturnal Hemoglobinuria?Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare acquired...
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Marfan Syndrome (MFS)
What Is Marfan Syndrome?Marfan Syndrome (MFS) is an autosomal dominant connective tissue disorder...

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