5 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... delayed puberty -> Infertility ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Melanoma of the Foot - The physical examination revealed a well-defined, fleshy, reddish plaque measuring 2
#Clinical #Derm ... #Podiatry #Honc ... #AmelanoticMelanoma ... Melanoma #Foot #NEJM
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Immunosuppressive Strategies for the Prevention or Treatment of Acute GVHD. Panel A shows several classic immunosuppressive
are in routine clinical ... been tested in clinical ... #Pathophysiology ... #IM #Honc #Pharm ... Immunosuppression #NEJM
Lingual Papillomas - He had macrocephaly (head circumference in the >97th percentile), as well as multiple
#Clinical #Genetics ... #Honc #LingualPapilloma ... Hamartoma #PTEN #NEJM