Tag: # Victor McKusick

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Victor McKusick, “Mendelian Inheritance in Man”, 1966, Chromosome #18.

Here I present: Victor McKusick, “Mendelian Inheritance in Man”, 1966, Chromosome #18. Thirty-five (35) traits of chromosome #18 are listed BELOW. Region 18p1 Traits. Myopia, high grade, autosomal dominant. Holoprosencephaly. Torsion dystonia, adult-onset, focal. Orthostatic hypotensive disorder of Streeten. Hepatitis B virus integration site. Retinoblastoma-binding protein. Amyloid neuropathy, familial. Amyloidosis, senile systemic. Carpal tunnel syndrome, … Continue reading Victor McKusick, “Mendelian Inheritance in Man”, 1966, Chromosome #18.

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Victor McKusick, “Mendelian Inheritance in Man”, 1966, Chromosome #17.

Here I present: Victor McKusick, “Mendelian Inheritance in Man”, 1966, Chromosome #17. Selected traits of chromosome #17 are listed BELOW. Region 17p1 Traits. Canavan disease. Ovarian cancer. Miller-Dieker syndrome. Retinitis pigmentosa. Tumor protein. Colorectal cancer. Li-Fraumeni syndrome. Cystinosis, nephropathic. Diabetes mellitus, noninsulin-dependent. Cone dystrophy. Myasthenic syndrome. Deafness, autosomal recessive. Smith-Magenis syndrome. VLCAD deficiency. Maturity Onset … Continue reading Victor McKusick, “Mendelian Inheritance in Man”, 1966, Chromosome #17.

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Victor McKusick, “Mendelian Inheritance in Man”, 1966, Chromosome #19.

Here I present: Victor McKusick, “Mendelian Inheritance in Man”, 1966, Chromosome 19. This book was printed  in twelve (12) editions from 1966 to 1998, shown ABOVE.  Ninety-eight (98) traits of chromosome #19 are listed BELOW. Region 19p1 Traits. Coxsackie virus sensitivity. Cyclic hematopoiesis. Fucosyltransferase-6 deficiency. Hypocalciuric hypercalcemia, type II. Leukemia, myeloid/lymphoid or mixed-lineage. Wegener granulomatosis autoantigen. … Continue reading Victor McKusick, “Mendelian Inheritance in Man”, 1966, Chromosome #19.

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Victor McKusick, “Mendelian Inheritance in Man”, 1966, Chromosome #21.

Here I present: Victor McKusick, “Mendelian Inheritance in Man”, 1966, Chromosome #21. This print book consists of twelve (12) editions from 1966 to 1998 shown ABOVE.  Thirty (30) alleles contained on chromosome #21 are listed BELOW. Region 21p1 Traits. Coxsackie and adenovirus receptor.   CXADR Amyloidsis, cerebroarterial, Dutch-type.  CAA Alzheimer disease, APP-related.   AD1 Schizophrenia, chronic.  SCZD Usher … Continue reading Victor McKusick, “Mendelian Inheritance in Man”, 1966, Chromosome #21.