Author: twinkl22004

IDC10= Q80.3 (Congenital bullous ichthyosiform erythroderma). Genomic coordinate (human 12:52,644,558 KRT2). Cytoband  (human 12q13.13 KRT2). Intraband %= KRT2 @45.4% OMIM’ genes @12q13.13 = 31 genes. Polymorphs =  243 KRT2 variants in ClinVar. Hyperbolic Umbilic Chromosome-12 is 1,200 genes. Here I 🎁 present: “Siemens Ichthyosis Bullosa”, Victor McKusick, Mendelian Inheritance in Man’, 1966. INTRODUCTION. Siemens Ichthyosis Bullosa (IBS), … Continue reading “Siemens Ichthyosis Bullosa”, Victor McKusick, Mendelian Inheritance in Man, 1966. (KRT2)

  Genomic coordinate (human 12:68,154,768 IFNG ). Cytoband (human 12q15 IFNG). Intraband %= 22.5% IFNG  OMIM’ genes @ 12q15 = 35 Hyperbolic Umbilic Chromosome-12 is 1,200 genes. Polymorphs = 54 variant IFNG genes in ClinVar.  Here I present: “Interferon-Gamma”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (IFNG) INTRODUCTION. Interferon-gamma (IFN-γ) is a critical signaling protein, or cytokine, that … Continue reading “Interferon-Gamma”, Victor McKusick, Mendelian Inheritance in Man, 1966. (IFNG)

Genomic coordinate (human 3:70,954,693 FOXP1) & (human 7:114,086,327 FOXP2). Cytoband (human 3p13 FOXP1) & (human 7q31.1 FOXP2). OMIM’genes = 15 @ 3p13 & 72 @ 7q31.1 Polymorphs= 772 FOXP1  & 317 FOXP2. Here I  🎁 present: “FOXP1 & FOXP2 in Dyspraxia“, Victor McKusick, Mendelian Inheritance in Man’, 1966. INTRODUCTION. Dyspraxia, also known as Developmental Coordination Disorder (DCD), is a … Continue reading “FOXP1 & FOXP2 in Dyspraxia”, Victor McKusick, Mendelian Inheritance in Man, 1966.

Genomic coordinate (human 12:4,368,227 FGF23) & (human 12:47,841,537 VDR) & (human 12:57,762,334 CYP27B1). Cytoband (human 12p13.32 FGF23) & (human 12q13.11  VDR) & (human 12q14.1 CYP27B1). OMIM’ genes: 12 @ 12p13.32, 12 @ 12q13.11, 28 @ 12q14.1. Polymorphs: 256 FGF23 & 508 VDR & 498 CYP27B1. Hyperbolic Umbilic Chromosome = 1,200 genes. Here I present: “Chromosome-12 loci of RICKETS (osteomalacia)”, Victor McKusick, Mendelian Inheritance in … Continue reading “Chromosome-12 Loci of RICKETS (osteomalacia)”, Victor McKusick, Mendelian Inheritance in Man, 1966.

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)