Retinitis pigmentosa and pes cavus in PHARC-polyneuropathy, hearing loss, ataxia, retinitis pigmento...
Retinitis pigmentosa and pes cavus in PHARC-polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract-syndrome in a 62-year-old man
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England: Elsevier Limited
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English
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England: Elsevier Limited
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On examination, the patient was not distressed; blood pressure was 135/60 mm Hg, pulse 87 beats per min, and oxygen saturation 93%. PHARC syndrome is a rare, autosomal recessive, neurodegenerative disease resulting from mutations in the α/β-hydrolase domain-containing 12 (ABHD12) serine hydrolase encoding gene. Sensorineural hearing loss may also o...
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Retinitis pigmentosa and pes cavus in PHARC-polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract-syndrome in a 62-year-old man
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TN_cdi_proquest_miscellaneous_2919740838
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2919740838
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ISSN
0140-6736,1474-547X
E-ISSN
1474-547X
DOI
10.1016/S0140-6736(23)02706-X
