Author: twinkl22004

  Here I 🎁 present: “SHEP (Skin–Hair–Eye Pigment), Victor McKusick, Mendelian Inheritance in Man’, 1966. INTRODUCTION  Pigment physiology is discussed here as being 📦 boxed. Boxes are ⬛ square 🧊 cube, tesseract, penteract have 4, 8, 16, 32 corners. This is a geometric concept of the physiology of pigment as five (5) anchor ⚓ genes: MC1R, … Continue reading “SHEP (Skin-Hair-Eye Pigment), Victor McKusick, Mendelian Inheritance in Man, 1966.

­   Genomic coordinate (human 11:32,435,518 WT1) & (mouse 2:104,956,874 Wt1). Cytoband (human 11p13 WT1) & (mouse 2qE5 Wt1). Here I 🎁 present: “Frasier Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (WT1) icd10=N04.1 Gene: WT1 (Wilms Tumor-1). Location: 11p13 Function: zinc-finger transcription factor Developmental domains: kidney (podocyte differentiation) gonads (sex determination) embryonic mesenchyme 👉 One gene → … Continue reading “Frasier Syndrome”, Victor McKusick, Mendelian Inheritance in Man, 1966. (WT1) icd10=N04.1

  Genomic coordinate (human 11:1;838,981 TNNI2) & (mouse 7:141,995,553 Tnni2). Cytoband (human 11p15.5 TNNI2) & (mouse 7qF5 Tnni2). Here I  🎁 present: “Distal Arthrogryposis-2B“, Victor McKusick, Mendelian Inheritance in Man’, 1966. (TNNI2) icd10=Q68.8 Etymological breakdown of Arthrogryposis.  Arthro-: Derived from arthron, meaning joint. Grypos: From the Greek grypos  meaning curved or hooked. -Osis: A common medical suffix denoting a condition, … Continue reading “Distal Arthrogryposis-2B”, Victor McKusick, Mendelian Inheritance in Man, 1966. (TNNI2) icd10=Q68.8

    Here I  🎁 present: “Ewing Sarcoma”, Victor McKusick, Mendelian Inheritance in Man’, 1966. icd10=C41.9 Oncologist James Ewing described the “primary sarcoma”  in 1921, distinguishing it from osteosarcoma. Oncologist James Ewing was on the cover of “Time” magazine, shown ABOVE, as one of the best experts, in 12 January 1931 issue of the magazine. Ewing … Continue reading “Ewing Sarcoma”, Victor McKusick, Mendelian Inheritance in Man, 1966. icd10=C41.9