2 results
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
Lingual Papillomas - He had macrocephaly (head circumference in the >97th percentile), as well as multiple
#Clinical #Genetics ... #Honc #LingualPapilloma ... CowdenSyndrome #Hamartoma ... #PTEN #NEJM