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Fabry Disease

What Is Fabry Disease?  Fabry disease is an inherited multi-organ metabolic disorder that is caused by a build-up of a t... Read More

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Klinefelter Syndrome

Klinefelter syndrome Klinefelter syndrome was first identified in the 1940s at Johns Hopkins in Baltimore by endocrinolo... Read More

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Síndrome de Klinefelter

Los 5 Puntos Más Importantes El síndrome de Klinefelter es una condición genética que ocurre en niños varones que nacen... Read More

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Síndrome de Lynch

El Síndrome de Lynch (SdL) es una condición hereditaria que aumenta de manera significativa el riesgo de desarrollar muc... Read More

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Rare Disease Guides

CHARGE Syndrome (CHD7)

Everything to know about CHD7, from the experts.

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Neurofibromatosis Type 2 (NF2)

Everything to know about NF2, from the experts.

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Prader-Willi Syndrome (PWS): Symptoms, Treatment + Podcast

Everything to know about PWS, from the experts.

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