Tag: # Victor McKusick

Genomic coordinate (human 12:4,368,277 FGF23) & (human  X:22,032,325 PHEX). Cytoband (human 12p13.32 FGF23) & (human Xp22.2 PHEX). OMIM’ genes: 12 @ 12p13.32 & 49 @ Xp22.2 Polymorphs = 255 FGF23 & 800 PHEX. Here I 🎁 present: “Hypophosphatemic Rickets”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (ADHR) Hypophosphatemic rickets (ADHR) is an autosomal dominant, hereditary disease in which excessive loss … Continue reading “Hypophosphatemic Rickets”, Victor McKusick, Mendelian Inheritance in Man, 1966. (ADHR)

Genomic coordinate (human 12:20,368,322 PDE3A). Cytoband (human 12p12.2 PDE3A). Intraband %= 47.4 PDE3A  Polymorphs = 273 PDE3A  OMIM’ genes @ 12p12.2 = 22 genes. Hyperbolic Umbilic Chromosome = 1,200 genes. Here I 🎁 present: “Hypertension and Brachydactyly Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (PDE3A) Hypertension and Brachydactyly Syndrome (HTNB), also known as Bilginturan syndrome, … Continue reading “Hypertension and Brachydactyly Syndrome”, Victor McKusick, Mendelian Inheritance in Man, 1966. (PDE3A)

Genomic coordinate (human 12:68,154,745 IFNG ). Cytoband (human 12q15 IFNG). Intraband %= 22.5% Polymorphs= 35 IFNG Hyperbolic Umbilic Chromosome = 1,200 genes. OMIM’ genes @ 12q15 = 34 genes.   Here I present: “Human Immunodeficiency Virus-1 Expression”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (IFNG) INTRODUCTION Interferon-gamma (IFNG) and T-helper 1 (Th1) cells play a double-edged role in … Continue reading “Human Immunodeficiency Virus-1 Expression”, Victor McKusick, Mendelian Inheritance in Man, 1966. (IFNG)

    Genomic coordinate (human 12:114,353,911 TBX5). Polymorphs =  900 TBX5 Cytoband (human 12q24.21 TBX5). Intraband %= 18.2% Hyperbolic Umbilic Chromosome = 1,200 gene distribution. OMIM’ genes @ 12q24.21 = 28   Here I present: “Holt-Oram Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (TBX5) INTRODUCTION. Holt-Oram syndrome is an autosomal dominant disorder characterized by abnormalities of the upper limbs and … Continue reading “Holt-Oram Syndrome”, Victor McKusick, Mendelian Inheritance in Man, 1966. (TBX5)

      Genomic coordinate (human 12:21,523,577 GYS2). Cytoband (human 12p12.1 GYS2). Intraband %=  9.9% Polymorphs =  330 GYS2  Here I present: “Type-O Glycogen Storage Disease“, Victor McKusick, Mendelian Inheritance in Man”, 1966. (GYS2) INTRODUCTION. The GYS2 gene provides the genetic instructions for producing an enzyme called liver glycogen synthase. This enzyme plays a central, rate-limiting … Continue reading “Type-O Glycogen Storage Disease”, Victor McKusick, Mendelian Inheritance in Man, 1966. (GYS2)