| 概要 |
Heimler syndrome (HS) is a rare recessive disorder characterized by sensorineural hearing loss, amelogenesis imperfecta, nail abnormalities, and occasional or late-onset retinal pigmentation. It has been reported that HS is caused by hypomorphic mutations in the peroxisome biogenesis genes PEX1 and PEX6. HS is considered the mildest end of Zellweger syndrome spectrum disorders.
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| 著者 |
Barillari MR, Karali M, Di Iorio V, Contaldo M, Piccolo V, Esposito M, Costa G, Argenziano G, Serpico R, Carotenuto M, Cappuccio G, Banfi S, Melillo P, Simonelli F |
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| 著者 |
Ratbi I, Falkenberg KD, Sommen M, Al-Sheqaih N, Guaoua S, Vandeweyer G, Urquhart JE, Chandler KE, Williams SG, Roberts NA, El Alloussi M, Black GC, Ferdinandusse S, Ramdi H, Heimler A, Fryer A, Lynch SA, Cooper N, Ong KR, Smith CE, Inglehearn CF, Mighell AJ, Elcock C, Poulter JA, Tischkowitz M, Davies SJ, Sefiani A, Mironov AA, Newman WG, Waterham HR, Van Camp G |
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