Category: Chromosome

  Genomic coordinate (human 12:55,720,376 RDH5). Cytoband (human 12q13.2 RDH5). Intraband %= 71.8% Polymorphs= 282 RDH5  Here I 🎁 present: “Fundus albipunctatus”, Victor McKusick, Mend­elian Inheritance in Man’, 1966. (RDH5) Fundus Albipunctatus is a catastrophe of visual‑cycle resilience.RDH5 deficiency reduces the structural capacity of the retinal pigment epithelium, shrinking the basin of attraction for efficient … Continue reading “Fundus albipunctatus”, Victor McKusick, Mendelian Inheritance in Man, 1966. (RDH5)

Genomic coordinate (human 12:52,674,736 KRT1). Cytoband (human 12q13.13 KRT1). Intraband% = 46.3% Polymorphs = 223 KRT1 Here I 🎁 present: “Epidermolytic Hyperkeratosis“, Victor McKusick, Mendelian Inheritance in Man’, 1966. (KRT1) INTRODUCTION. Epidermolytic hyperkeratosis is a skin disorder that is present at birth. Affected babies may have very red skin (erythroderma) and severe blisters. Because newborns with this disorder … Continue reading “Epidermolytic Hyperkeratosis”, Victor McKusick, Mendelian Inheritance in Man,1966. (KRT1)

  Genomic coordinate (human 6:24,171,755 DCDC2). Cytoband (human 6p22.3 DCDC2).  Interband %= 89.7% Polymorphs =  397 DCDC2 Here I present: “Reading 📚Disorders: Dyslexia Type-2”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (DCDC2). INTRODUCTION. Dyslexia 📚 (disorder) is a common heterogeneous disorder with a significant genetic component. Multiple studies have replicated the evidence for linkage between variously defined phenotypes of … Continue reading “Reading 📚 Disorders: Dyslexia Type-2”, Victor McKusick, “Mendelian Inheritance in Man”, 1966.(DCDC2)

Genomic coordinate (human 12:4,909,905 KCNA1). Cytoband (human 12p13.32 KCNA1). Intraband %= 81.4% Polymorphs = 644 KCNA1 Here I 🎁 present: “Episodic Ataxia Type-1″, Victor McKusick, Mendelian Inheritance in Man’, 1966. (KCNA1) INTRODUCTION. Episodic Ataxia-myokymia Synd­rome (Episodic Ataxia Type-1).  It explicitly highlights the two main features of the condition: sudden attacks of motor dysfunction (ataxia) alongside … Continue reading “Episodic Ataxia Type-1”, Victor McKusick, Mendelian Inheritance in Man, 1966. (KCNA1)

  Genomic coordinate (human 12:110,280,616 ATP2A2). Cytoband (human 12q24.11 ATP2A2). Intraband %= 62.2% Here I present: “Darier Disease”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (ATP2A2) Darier disease (keratosis follicularis) is a genetic skin disorder characterized by persistent, greasy, scaly bumps (papules) that primarily affect seborrheic areas of the body. It is a chronic, lifelong … Continue reading “Darier Disease”, Victor McKusick, Mendelian Inheritance in Man, 1966. (ATP2A2)