Intrahepatic Cholestasis, Refractory Epilepsy, Skeletal Dysplasia, Endocrine Failure, and Dysmorphic Features in a Child With a Monoallelic 2q24-32.2 Deletion Encompassing ABCB11
Pediatric and developmental pathology（2022）
关键词
neonatal cholestasis,metabolic liver,congenital heart disease,congenital hypothyroidism,farnesoid X-activated receptor,dysmorphology
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