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Ocular albinism with congenital sensorineural hearing loss

MedGen UID:
1684693
•Concept ID:
CN028925
•
Disease or Syndrome
Synonym: Albinism, ocular, with sensorineural deafness

Recent clinical studies

Diagnosis

Clinical findings in Japanese patients with Waardenburg syndrome type 2.
Ohno N, Kiyosawa M, Mori H, Wang WF, Takase H, Mochizuki M
Jpn J Ophthalmol 2003 Jan-Feb;47(1):77-84. doi: 10.1016/s0021-5155(02)00629-9. PMID: 12586183

Clinical prediction guides

Clinical findings in Japanese patients with Waardenburg syndrome type 2.
Ohno N, Kiyosawa M, Mori H, Wang WF, Takase H, Mochizuki M
Jpn J Ophthalmol 2003 Jan-Feb;47(1):77-84. doi: 10.1016/s0021-5155(02)00629-9. PMID: 12586183
Heterogeneity in Waardenburg's syndrome. Report of a family with ocular albinism.
Bard LA
Arch Ophthalmol 1978 Jul;96(7):1193-8. doi: 10.1001/archopht.1978.03910060027006. PMID: 666627

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