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diagnosis symptoms signs management differential cardiology endocrinology nephrology syndrome pharmacology ophthalmology causes complications infectiousdiseases msk algorithm lifecycle hepatology cdc hematology
Gitelman Syndrome Pathophysiology Gitelman Syndrome is a rare autosomal recessive salt-losing tubulopathy with a prevalence of 1-
Gitelman Syndrome Pathophysiology ... Syndrome is a rare autosomal ... Gitelman #Syndrome #Pathophysiology
Retinitis Pigmentosa: Pathogenesis and Ocular Manifestations • Inherited mutation of rhodopsin gene -> Mode of inheritance
inheritance may be autosomal ... dominant, autosomal ... RetinitisPigmentosa #pathophysiology
Features of a Sickle Cell Crisis Sickle-cell disease - an autosomal recessive blood disorder. Characterized by red
Sickle-cell disease - an autosomal ... The underlying pathophysiology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Clinical Findings Autosomal ... #21HydroxylaseDeficiency #21OHD #pathophysiology
Dupuytren’s Disease: Pathogenesis and Clinical Findings • Aging, smoking and/or diabetes -> Microangiopathy and palmar fascia
European descent -> Autosomal ... #Contractures #pathophysiology
Autosomal Dominant Inheritance - Most common mode of Mendelian inheritance - Affected individual carries the
Autosomal Dominant ... one of a pair of autosomes ... #Autosomal #Dominant
Marfan Syndrome - Signs and Symptoms - Caused by mutations in the fibrillin-1 (FBN1) Gene (chromosome 15) -
fibrillin function - Autosomal
Causes of Dilated Cardiomyopathy DCMP - Differential Diagnosis Algorithm Idiopathic DCMP: Viral, Inflammatory cardiomyopathy, Genetic causes, Unknown
Genetically determined: Autosomal ... dominant, Autosomal
Inherited Non-hemolytic Disorders of Hyperbilirubinemia == Disorders of Conjugation == Gilbert Syndrome: • 5-10% of the population
syndrome • An autosomal ... a super rare, autosomal ... Type II CN is an autosomal ... Syndrome: • Autosomal ... Dubin-Johnson: • Autosomal
Von Recklinghausen's Syndrome - Neurofibromatosis Type 1 (NF1) Hereditary multiple neurofibromas. Autosomal dominant with high rate
Autosomal dominant
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