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searching for Syndromic microphthalmia 6 found (7 total)

alternate case: syndromic microphthalmia

VSX2 (423 words) [view diff] exact match in snippet view article find links to article

Ofir R, Birk OS (September 2004). "CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds". Human Genetics. 115

Microphthalmia (2,173 words) [view diff] exact match in snippet view article find links to article

conjunction with other developmental defects, it may be diagnosed as syndromic microphthalmia (MCOPS). Approximately 60 to 80% of microphthalmia cases are syndromic

PORCN (422 words) [view diff] exact match in snippet view article find links to article

"Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia". European Journal of Human Genetics. 23 (4): 551–4. doi:10.1038/ejhg

BCL-6 corepressor (1,146 words) [view diff] exact match in snippet view article find links to article

reported for this gene. Mutations in the BCOR gene cause a form of syndromic microphthalmia (small eye) called MCOPS2. This syndrome incorporates microphthalmia

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

embryonic optic cup. Mutations of the CHX10 gene can cause non-syndromic microphthalmia. By studying mice with CHX10 mutations Sowden looks to identify

Ohad Birk (3,393 words) [view diff] exact match in snippet view article find links to article

N.; Ofir, R.; Birk, O. S. (2004). "CHX10 mutations cause non-syndromic microphthalmia/ Anophthalmia in Arab and Jewish kindreds". Human Genetics. 115