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searching for Norrie disease 4 found (27 total)

Childhood cataract (1,225 words) [view diff] exact match in snippet view article find links to article

multiple different genetic disorders associated with congenital cataracts: Norrie disease (X-linked recessive inheritance), Nance-Horan syndrome (X-linked recessive

Jane Sowden (665 words) [view diff] case mismatch in snippet view article find links to article

Europe PubMed Central "Professor Jane Sowden". norriedisease.org.uk. The Norrie Disease Foundation. Retrieved 2022-04-29. Sowden, Jane Caroline (1991). Transcriptional

Monoamine oxidase B (4,373 words) [view diff] exact match in snippet view article find links to article

with a documented loss-of-function mutation were described in atypical Norrie disease patients, harboring deletions of both the ND gene as well as the (adjacent)

Severe intellectual disability-progressive spastic diplegia syndrome (2,374 words) [view diff] case mismatch in snippet view article find links to article

2019). "Germline Mutations in CTNNB1 Associated With Syndromic FEVR or Norrie Disease". Investigative Ophthalmology & Visual Science. 60 (1): 93–97. doi:10