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“Cardiofaciocutaneous Syndrome”, Victor McKusick, Mendelian Inheritance in Man, 1966. Genomic coordinate (human 12:25,205,246 KRAS). Cytoband (human 12p12.1 KRAS). Intraband %= 79.3% Here I present: …... https://holidayrecipestocook.com/2026/06/11/cardiofaciocutaneous-syndrome-victor-mckusick-mendelian-inheritance-in-man-1966/
“MYL2 Pleiotropy”, Victor McKusick, Mendelian Inheritance in Man, 1966. (MYL2) Genomic coordinate (human 12: MYL2). Cytoband (human 12q24.11 MYL2). Intraband %= Here I 🎁 present: …... https://holidayrecipestocook.com/2026/06/10/myl2-pleiotropy-victor-mckusick-mendelian-inheritance-in-man-1966-myl2/
“MIP (APQO) in Cataracts“, Victor McKusick, Mendelian Inheritance in Man, 1966. idc10=Q12.0 Genomic coordinate (human 12:56,449,502 MIP (APQO) ). Cytoband (human 12q13.3 MIP (APQO) ). Intraband %= 16.6%... https://holidayrecipestocook.com/2026/06/06/mip-apqo-in-cataracts-victor-mckusick-mendelian-inheritance-in-man-1966-idc10q12-0/
“Brachydactyly Type-C”, Victor McKusick, Mendelian Inheritance in Man, 1966. (GDF5) Genomic coordinate (human 20:35,433,347 GDF5). Cytoband (human 20q11.22 GDF5). Intraband%= 84.1% Here I 🎁 present: …... https://holidayrecipestocook.com/2026/06/07/brachydactyly-type-c-victor-mckusick-mendelian-inheritance-in-man-1966-gdf5/
“Cornea Plana Type-2”, Victor McKusick, Mendelian Inheritance in Man, 1966. (KERA) Genomic coordinate (human 12:91,050,491 KERA). Cytoband (human 12q21.33 KERA). Intraband %= 68.1% Here I 🎁 present: …... https://holidayrecipestocook.com/2026/06/05/cornea-plana-type-2-victor-mckusick-mendelian-inheritance-in-man-1966-kera/
“Adrenoleukodystrophy Like-1”, Victor McKusick, Mendelian Inheritance in Man, 1966. (ADL1) Genomic coordinate (human 12:39,531,035 ADL1). Cytoband (human 12q12 ADL1). Intraband %= 21.1% Here I present: …... https://holidayrecipestocook.com/2026/06/05/adrenoleukodystrophy-like-1-victor-mckusick-mendelian-inheritance-in-man-1966-adl1/
“Hereditary Amyloidosis Type-5”, Victor McKusick, Mendelian Inheritance in Man, 1966. idc10=E85.4 Genomic coordinate (human 12:69,348,381 LYZ). Cytoband (human 12q15 LYZ). Intraband %= 53.9% Here I 🎁 present: …... https://holidayrecipestocook.com/2026/06/04/hereditary-amyloidosis-type-5-victor-mckusick-mendelian-inheritance-in-man-1966-idc10e85-4/
“Familial Alzheimer Disease Type-5”, Victor McKusick, Mendelian Inheritance in Man,1966. (AD5) Genomic coordinate (human 12:26,300,001 AD5). Cytobands (human 12p11.2-q13. AD5). Here I 🎁 present: "Familial Alzheimer Disease Type-5",... https://holidayrecipestocook.com/2026/06/04/familial-alzheimer-disease-type-5-victor-mckusick-mendelian-inheritance-in-man1966-ad5/
“Anti-Mullerian Hormone Receptor-2”, Victor McKusick, Mendelian Inheritance in Man, 1966. idc10=Q55.8 (AMHR2) Genomic coordinate (human 12:53,423,855 AMHR2). Cytoband (human 12q13.13 AMHR2). Intraband % = 69.3% …... https://holidayrecipestocook.com/2026/06/02/anti-mullerian-hormone-receptor-2-victor-mckusick-mendelian-inheritance-in-man-1966-idc10q55-8-amhr2/
“Achondrogenesis-Hypochondrogenesis Type-2”, Victor McKusick, Mendelian Inheritance in Man, 1966. Genomic coordinate (human 12:47,972,967 COL2A1). Cytoband (human 12q13.11 COL2A1). Here I 🎁 present: ,"... https://holidayrecipestocook.com/2026/06/02/achondrogenesis-hypochondrogenesis-type-2-victor-mckusick-mendelian-inheritance-in-man-1966/
“Acute Alcohol Intolerance”, Victor McKusick, Mendelian Inheritance in Man, 1966. (ALDH2)
Genomic coordinate (human 12:111,766,887 ALDH2). Cytoband (human 12q24.12 ALDH2). Here I present: “Acute Alcohol Intolerance”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (ALDH2) INTRODUCTION. Acute alcohol intolerance is a metabolic condition where the body cannot efficiently break down alcohol, leading to rapid, highly uncomfortable, and immediate physical reactions. This condition…
"Wilms Tumor 1 & 2", Victor McKusick, Mendelian Inheritance in Man, 1966. (WT1&2)
Genomic coordinate (11:32,387,775 WT1 & 11:1,900,000 WT2). Cytoband (11p13 WT1 & 11p15.5 WT2). Here I 🎁 present: “Wilms Tumor 1 & 2“, Victor McKusick, Mendelian Inheritance in Man’, 1966. (WT1&2). Five Stages of Wilms Tumor. Staging is a measure of how far the tumor has spread. It helps our doctors determine the best treatment for your child. Stage 1: The cancer is only in one kidney and can…
"Xeroderma Pigmentosum Group-E", Victor McKusick, Mendelian Inheritance in Man, 1966. (DDB2).
Genomic coordinate (human 11:47,214,457 DDB2). Cytoband (human 11p11.2 DDB2). Here I 🎁 present: “Xeroderma Pigmentosum Group-E”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (DDB2). INTRODUCTION. Xeroderma pigmentosum (XP) is an inherited genetic disorder characterized by an extreme sensitivity to ultraviolet (UV) radiation from sunlight and certain artificial lighting. The condition…
"Allgrove (AAA) Syndrome", Victor McKusick, Mendelian Inheritance in Man, 1966.
Genomic coordinate (human 12:53,307,455 AAAS). Cytoband (human 12q13.13 AAAS). Here I present: “Allgrove (AAA) Syndrome”, Victor McKusick, Mendelian Inheritance in Man”, 1966. INTRODUCTION. Allgrove syndrome, is an inherited autosomal recessive disorder caused by mutations in the AAAS gene. It gets its name from three cardinal features: Achromasia (adrenal insufficiency), Achalasia, and…
TCIRG1 in Immune-class Disorders", Victor McKusick, Mendelian Inheritance in Man', 1966.
Genomic coordinate (human 11:68,039,025 TCIRG1). Cytoband (human 11q13.2 TCIRG1). Here I 🎁 present: “TCIRG1 in Immune-class Disorders”, Victor McKusick, Mendelian Inheritance in Man’, 1966. INTRODUCTION. The TCIRG1 gene encodes several protein isoforms, with 2 main isoforms. The full-length isoform (OC116) encodes the A3 subunit of vacuolar H(+)-ATPase, which is involved in regulation of the pH…
"MYO7A in Usher Syndrome", Victor McKusick, Mendelian Inheritance in Man, 1966. (MYO7A)
Genomic coordinate (human 11:77,128,245 MYO7A). Cytoband (human 11q13.5 MYO7A). Here I 🎁 present: “MYO7A in Usher Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (MYO7A) INTRODUCTION. Usher syndrome is an inherited genetic disorder primarily characterized by a combination of hearing loss, progressive vision loss, and, in some cases, severe balance issues. It stands as…
"B-cell Negative Severe-combined Immunodeficiency", Victor McKusick, Mendelian Inheritance in Man, 1966. (RAG1/2) idc10=D81.1
Genomic coordinate (human 11:36,510,353 RAG1 & 11:36,590,996 RAG2). Cytoband (human 11p12 RAG1/2). Here I 🎁 present: “B-cell Negative Severe-combined Immunodeficiency”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (RAG1/2) idc10=D81.1 INTRODUCTION The RAG1 and RAG2 proteins function together as an essential heterotetrameric endonuclease complex that initiates V(D)J recombination to…