2024
Expanding the spectrum of progressive familial intrahepatic cholestasis: A report of 3 cases
Jiao J, Morotti R, Shafizadeh N, Jain D. Expanding the spectrum of progressive familial intrahepatic cholestasis: A report of 3 cases. American Journal Of Clinical Pathology 2024, 163: 332-339. PMID: 39333837, DOI: 10.1093/ajcp/aqae123.Peer-Reviewed Original ResearchProgressive familial intrahepatic cholestasisATP-binding cassette subfamily B member 4Whole-exome sequencingFamilial intrahepatic cholestasisIntrahepatic cholestasisDiagnostic challengeGroup of autosomal recessive disordersAbnormal liver function testsHomozygous splice site variantDrug-induced liver injuryHeterozygous frameshift mutationHeterozygous missense mutationLiver function testsAged 2 monthsAutosomal recessive disorderSplice site variantHistory of alcoholismABCB4 mutationsPediatric ageLiver biopsyClinical historyRecessive disorderLiver injuryMolecular testingHeterogeneous presentation
2020
Motility Disorders of the Gastrointestinal Tract
Morotti R, Jain D. Motility Disorders of the Gastrointestinal Tract. Practical Anatomic Pathology 2020, 313-337. DOI: 10.1007/978-3-030-51268-2_13.Peer-Reviewed Original ResearchMotility disordersGastrointestinal tractRole of immunohistochemistryVisceral myopathyVisceral neuropathyClinical correlatesHirschsprung's diseaseHistologic characteristicsCommon disorderAdverse effectsDisordersHistochemical stainsMotility functionTractNeuropathyMedicationsImmunohistochemistryWorkupMyopathyDiseaseDiagnosis
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