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Longer titles found: Anophthalmia megalocornea cardiopathy skeletal anomalies syndrome (view), Waardenburg anophthalmia syndrome (view)

searching for Anophthalmia 19 found (53 total)

alternate case: anophthalmia

VSX2 (471 words) [view diff] exact match in snippet view article find links to article

et al. (2005). "CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds". Hum. Genet. 115 (4): 302–309. doi:10
TFAP2C (1,213 words) [view diff] exact match in snippet view article find links to article
disease characterized by face and neck abnormalities, such as cleft lip or anophthalmia – lack of eyeballs, that have developed prior to birth. Complete knockout
Ol'ga Leonova (645 words) [view diff] exact match in snippet view article find links to article
focussed on stillborn infants with congenital brain disease (anencephalia, anophthalmia, amyelia). Here she described the connection between central nervous
CHD7 (1,571 words) [view diff] exact match in snippet view article find links to article
(2006-05-26). "Microphthalmia/Anophthalmia/Coloboma Spectrum – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY". Anophthalmia/Microphthalmia Overview. University
POMT1 (1,019 words) [view diff] exact match in snippet view article find links to article
GeneReviews/NCBI/NIH/UW entry on Congenital Muscular Dystrophy Overview GeneReviews/NCBI/NIH/UW entry on Anophthalmia / Microphthalmia Overview v t e
BCL-6 corepressor (1,146 words) [view diff] exact match in snippet view article find links to article
"Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder?". American Journal of Medical
SIX4 (455 words) [view diff] exact match in snippet view article find links to article
genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies". Genomics. 61 (1): 82–91. doi:10.1006/geno.1999
PAX6 (2,710 words) [view diff] exact match in snippet view article find links to article
gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects". Nature Genetics. 7 (4): 463–71.
SIX3 (1,467 words) [view diff] exact match in snippet view article find links to article
Bibcode:2007PNAS..10413128M. doi:10.1073/pnas.0705878104. PMC 1941821. PMID 17666527. GeneReviews/NCBI/NIH/UW entry on Anophthalmia / Microphthalmia Overview
HESX1 (1,024 words) [view diff] exact match in snippet view article find links to article
1207. PMID 14714741. S2CID 45542882. GeneReviews/NCBI/NIH/UW entry on Anophthalmia / Microphthalmia Overview HESX1+protein,+human at the U.S. National Library
SOX2OT (288 words) [view diff] exact match in snippet view article find links to article
J, Ragge NK, Lynch SA, et al. (April 2003). "Mutations in SOX2 cause anophthalmia". Nat. Genet. 33 (4): 461–3. doi:10.1038/ng1120. PMID 12612584. Amaral
WAGR syndrome (967 words) [view diff] exact match in snippet view article find links to article
gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects". Nat Genet. 7 (4): 463–71. doi:10
Podocyte (1,781 words) [view diff] exact match in snippet view article find links to article
renal slit junction abnormalities and a partially penetrant cyclopia and anophthalmia phenotype". Molecular and Cellular Biology. 23 (10): 3575–3582. doi:10
Retinol binding protein 4 (2,035 words) [view diff] exact match in snippet view article find links to article
recently been linked to a form of autosomal dominant microphthalmia, anophthalmia, and coloboma (MAC) disease. A unique feature of this disease is the
Pogona (3,310 words) [view diff] exact match in snippet view article find links to article
temperature issues during the development of the affected area. Microphthalmia/anophthalmia is when a bearded dragon is born with small or no eye(s). The cause of
IKBKG (3,277 words) [view diff] exact match in snippet view article find links to article
GeneReviews/NIH/NCBI/UW entry on Incontinentia Pigmenti OMIM IKBKG GeneReviews/NCBI/NIH/UW entry on Anophthalmia / Microphthalmia Overview Portal: Biology
List of diseases (M) (2,469 words) [view diff] exact match in snippet view article
retardation Mental retardation a – Mental retardation m Mental retardation anophthalmia craniosynostosis Mental retardation arachnodactyly hypotonia telangiectasia
Ohad Birk (3,346 words) [view diff] exact match in snippet view article find links to article
Congenital cataract (recessive) due to CRYBB1 mutation. Microphthalmia / anophthalmia (non-syndromic) caused by CHX10 mutation Infantile neuroaxonal dystrophy:
Sonic hedgehog protein (7,240 words) [view diff] exact match in snippet view article find links to article
New York Times November 12, 2006 .. GeneReviews/NCBI/NIH/UW entry on Anophthalmia / Microphthalmia Overview SHH – sonic hedgehog US National Library of