About: Hagemoser–Weinstein–Bresnick syndrome     Goto   Sponge   Distinct   Permalink

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Hagemoser–Weinstein–Bresnick syndrome is an autosomal dominant genetic disorder first described by Hagemoser et al. in 1989. It is characterized by optic atrophy followed shortly by loss of hearing and peripheral neuropathy. Onset of the disease occurred in early childhood, as opposed to the later onset of similar diseases. Optic atrophy occurs in the first year and the following symptoms show up before thirteen years. A possible autosomal recessive form of this disease was described in 1970 by Iwashita et al.

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  • Hagemoser-Weinstein-Bresnick-Syndrom (de)
  • Hagemoser–Weinstein–Bresnick syndrome (en)
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  • Das Hagemoser-Weinstein-Bresnick-Syndrom ist eine sehr seltene, zu den Autosomal-dominanten Optikusatrophien (ADOA) gehörende angeborene Erkrankung mit einer Kombination von fortschreitender Schwerhörigkeit, Polyneuropathie wie beim Morbus Charcot-Marie-Tooth und einer Optikusatrophie. Synonyme sind: Optikusatrophie - Polyneuropathie -Taubheit – Myopathie; DOA+; ADOA plus Die Bezeichnung bezieht sich auf die Erstautoren der Erstbeschreibung aus dem Jahre 1989 durch die US-amerikanischen Humangenetiker Kristal Hagemoser, Joel Weinstein, George Bresnick und Mitarbeiter. (de)
  • Hagemoser–Weinstein–Bresnick syndrome is an autosomal dominant genetic disorder first described by Hagemoser et al. in 1989. It is characterized by optic atrophy followed shortly by loss of hearing and peripheral neuropathy. Onset of the disease occurred in early childhood, as opposed to the later onset of similar diseases. Optic atrophy occurs in the first year and the following symptoms show up before thirteen years. A possible autosomal recessive form of this disease was described in 1970 by Iwashita et al. (en)
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  • Hagemoser–Weinstein–Bresnick syndrome (en)
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  • Hagemoser–Weinstein–Bresnick syndrome (en)
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  • http://commons.wikimedia.org/wiki/Special:FilePath/Autosomal_dominant_-_en.svg
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  • H47.2, H90.3 (en)
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  • Hagemoser–Weinstein–Bresnick syndrome is inherited in an autosomal dominant manner (en)
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  • Das Hagemoser-Weinstein-Bresnick-Syndrom ist eine sehr seltene, zu den Autosomal-dominanten Optikusatrophien (ADOA) gehörende angeborene Erkrankung mit einer Kombination von fortschreitender Schwerhörigkeit, Polyneuropathie wie beim Morbus Charcot-Marie-Tooth und einer Optikusatrophie. Synonyme sind: Optikusatrophie - Polyneuropathie -Taubheit – Myopathie; DOA+; ADOA plus Die Bezeichnung bezieht sich auf die Erstautoren der Erstbeschreibung aus dem Jahre 1989 durch die US-amerikanischen Humangenetiker Kristal Hagemoser, Joel Weinstein, George Bresnick und Mitarbeiter. (de)
  • Hagemoser–Weinstein–Bresnick syndrome is an autosomal dominant genetic disorder first described by Hagemoser et al. in 1989. It is characterized by optic atrophy followed shortly by loss of hearing and peripheral neuropathy. Onset of the disease occurred in early childhood, as opposed to the later onset of similar diseases. Optic atrophy occurs in the first year and the following symptoms show up before thirteen years. A possible autosomal recessive form of this disease was described in 1970 by Iwashita et al. (en)
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  • H47.2, H90.3
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