Intrahepatic Cholestasis, Refractory Epilepsy, Skeletal Dysplasia, Endocrine Failure, and Dysmorphic Features in a Child With a Monoallelic 2q24-32.2 Deletion Encompassing ABCB11

Rodrigo Tzovenos Starosta, Jorge Luis Granadillo, Kalyani R. Patel, Milton J. Finegold, Janis Stoll, Sakil Kulkarni

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Medicine and Dentistry

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Biochemistry, Genetics and Molecular Biology