Anne Skomorowsky

The Carriers

What the Fragile X Gene Reveals About Family, Heredity, and Scientific Discovery

• Gebundenes Buch

Produktbeschreibung

The Carriers investigates a common but still little-known genetic condition and its life-altering consequences. Anne Skomorowsky reveals how fragile X syndrome afflicts families across generations, telling the stories of the mothers and grandparents of fragile X patients and considering how genes interact with family dynamics.

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Produktdetails

• Verlag: Columbia University Press
• Seitenzahl: 280
• Erscheinungstermin: 3. Mai 2022
• Englisch
• Abmessung: 226mm x 151mm x 27mm
• Gewicht: 508g
• ISBN-13: 9780231197663
• ISBN-10: 0231197667
• Artikelnr.: 62635180

Autorenporträt

Anne Skomorowsky Foreword by Randi J. Hagerman

Inhaltsangabe

Foreword, by Randi Hagerman, MD
Introduction: The Carriers
1. One Damn Thing After Another
2. Fragile X Mutations: An Overview
3. Village of Fools: How Carriers Brought Fragile X to Colombia, and What
Happened Next
4. A Classic Zebra: Fragile X-Associated Primary Ovarian Insufficiency
(FXPOI)
5. The Movement Disorder That Started a Movement: Fragile X-Associated
Tremor/Ataxia Syndrome (FXTAS)
6. Once More, with Feelings: Fragile X-Associated Neuropsychiatric
Disorders (FXAND)
7. What Are Fragile Eggs? To Test or Not to Test
8. Borderlands of the Premutation: Gray Zones, Low-Normals, and
Endophenotypes
9. Outcomes
Notes
Acknowledgments
Index