Author: twinkl22004

Genomic coordinate (human 20:35,433,347 GDF5). Cytoband (human 20q11.22 GDF5). Intraband%= 84.1% Here I 🎁 present: “Brachydactyly Type-C”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (GDF5) Brachydactyly Type-C   congenital bone dysplasia primarily characterized by the shortening of the index, middle, and little fingers while typically leaving the ring finger unaffected. Because the fourth digit is spared, … Continue reading “Brachydactyly Type-C”, Victor McKusick, Mendelian Inheritance in Man, 1966. (GDF5)

  Genomic coordinate (human  12:56,449,502 MIP (APQO) ). Cytoband (human 12q13.3 MIP (APQO) ). Intraband %= 16.6% Here I 🎁 present: “MIP (APQO) in Cataracts“, Victor McKusick, Mendelian Inheritance in Man’, 1966. idc10=Q12.0 INTRODUCTION. In the context of cataracts, MIP (Major Intrinsic Protein of the lens), also known as Aquaporin-0 (AQP0), is the most abundant membrane protein in … Continue reading “MIP (APQO) in Cataracts“, Victor McKusick, Mendelian Inheritance in Man, 1966. idc10=Q12.0

  Genomic coordinate (human 12:91,050,491  KERA). Cytoband (human 12q21.33 KERA). Intraband %= 68.1% Here I 🎁 present: “Cornea Plana Type-2”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (KERA) INTRODUCTION. Cornea plana-2 is a congenital disorder that causes the cornea to flatten and the angle between the sclera and cornea to shrink. This could result in … Continue reading “Cornea Plana Type-2”, Victor McKusick, Mendelian Inheritance in Man, 1966. (KERA)

Genomic coordinate (human 12:39,531,035 ADL1). Cytoband (human 12q12 ADL1). Intraband %= 21.1% Here I present: “Adrenoleukodystrophy Like-1”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (ADL1) Adrenoleukodystrophy (ALD), a severe demyelinating disease, is caused by mutations in a gene coding for a peroxisomal membrane protein (ALDP), which belongs to the superfamily of ATP binding cassette (ABC) transporters and has … Continue reading “Adrenoleukodystrophy Like-1”, Victor McKusick, Mendelian Inheritance in Man, 1966. (ADL1)

    Genomic coordinate (human 12:69,348,381 LYZ). Cytoband (human 12q15 LYZ). Intraband %= 53.9% Here I 🎁 present: “Hereditary Amyloidosis Type-5″, Victor McKusick, Mendelian Inheritance in Man’, 1966. idc10=E85.4 Hereditary Amyloidosis Type-5 is a genetic disorder typically classified into two distinct types: Gelsolin Amyloidosis and Lysozyme-associated Hereditary Systemic Amyloidosis. These autosomal dominant conditions cause abnormal protein … Continue reading “Hereditary Amyloidosis Type-5”, Victor McKusick, Mendelian Inheritance in Man, 1966. idc10=E85.4