Tag: # Victor McKusick

IDC10-Code = Q55.8 Genomic coordinate (human 12:53,423,855 AMHR2). Cytoband (human 12q13.13 AMHR2). Intraband %= 68.3% AMHR2  OMIM’ genes @ 12q13.13 = 31 genes. ClinVar = 172 AMHR2 variants reported. Hyperbolic Umbilic Chromosome-12 is 1,200 genes. Chromosome-12 Cytobands: WG2B2GC_CBG5B2G6 (12/29) Here I 🎁 present: “Persistent Müllerian Duct Syndrome-2“, Victor McKusick, Mendelian Inheritance in Man’, 1966. (AMHR2) INTRODUCTION. … Continue reading “Persistent Müllerian Duct Syndrome-2”, Victor McKusick, Mendelian Inheritance in Man, 1966. (AMHR2)

    Genomic coordinate (human 12:52,486,176 KRT6A). Cytoband (human 12q13.13 KRT6A). Intrab­and%= 40.8% KRT6A  OMIM’ genes @ 12q13.13 = 31 genes. ClinVar = 257 KRT6A variants reported. Hyperbolic Umbilic Chromosome-12 is 1,200 genes. Chromosome-12 Cytobands: WG2B2GC_CBG5B2G6 (12/29) Here I present: “Pachyonychia Congenita”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (KRT6A) Pachyonychia congenita (PC)  is a … Continue reading “Pachyonychia Congenita”, Victor McKusick, Mendelian Inheritance in Man, 1966. (KRT6A)

Genomic coordinate (human 12:55,723,535 CD63). Cytoband (human 12q13.2 CD63). Intraband %= 72.0% CD63  ClinVar = 179 CD63 variants reported. OMIM’ genes @ 12q13.2 = 22 genes. Hyperbolic Umbilic Chromosome-12 is 1,200 genes. Chromosome-12 Cytobands: WG2B2GC_CBG5B2G6 (12/29) Here I  🎁 present:  “Melanoma Type-1 Antigen“, Victor McKusick, Mendelian Inheritance in Man’, 1966. (CD63) INTRODUCTION. Here we illustrates the dual, context-dependent roles … Continue reading “Melanoma Type-1 Antigen”, Victor McKusick, Mendelian Inheritance in Man, 1966. (CD63)

IDC10 Code = C49 Genomic coordinate (human 12:46,000,001 MXLPO). Cytoband (human 12q13.11 MXLPO). OMIM’ genes @ 12q13.11 = 12 genes. Hyperbolic Umbilic Chromosome-12 is 1,200 genes. Chromosome-12 Cytobands: WG2B2GC_CBG5B2G6 (12/29)   Here I 🎁 present: “Myxoid Liposarcoma”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (MXLPO) INTRODUCTION. NR3C1 (Nuclear Receptor Subfamily 3, Group C, Member 1) is the gene encoding the Glucocorticoid … Continue reading “Myxoid Liposarcoma”, Victor McKusick, Mendelian Inheritance in Man, 1966. (MXLPO)

Genomic coordinate (human 12:120,978,543 HNF1A). Cytoband (human 12q24.31 HNFIA). Intraband %= 13.3% HNFIA ClinVar = 2,300 HNF1A variants reported. OMIM’ genes @ 12q24.31 = 22 genes  Hyperbolic Umbilic Chromosome-12 is 1,200 genes. Chromosome-12 Cytoband: WG2B2GC_CBG5B2G6 (12/29) Here I 🎁 present: “HNFIA Pleiotropic Disorders“, Victor McKusick,  Mendelian Inheritance in Man’, 1966. (HNFIA) INTRODUCTION. The pleiotropic disorders caused … Continue reading “HNFIA Pleiotropic Disorders”, Victor McKusick,  Mendelian Inheritance in Man, 1966. (HNFIA)