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searching for ABCA4 7 found (24 total)

alternate case: aBCA4

Occult macular dystrophy (1,462 words) [view diff] exact match in snippet view article find links to article

because of two mutations arising simultaneously, one in RP1L1 and another in ABCA4. OMD is generally believed to be autosomal dominant, meaning that if you

Malformative syndrome (172 words) [view diff] exact match in snippet view article find links to article

related syndromes: TMEM216 cleft lip with and without cleft palate: MAFB and ABCA4 Schinzel–Giedion syndrome: SETBP1 Fanconi anemia and related disorders:

VAX1 (921 words) [view diff] exact match in snippet view article find links to article

lip with and without cleft palate identifies risk variants near MAFB and ABCA4". Nat. Genet. 42 (6): 525–9. doi:10.1038/ng.580. PMC 2941216. PMID 20436469

MAFB (gene) (1,476 words) [view diff] exact match in snippet view article

lip with and without cleft palate identifies risk variants near MAFB and ABCA4". Nature Genetics. 42 (6): 525–9. doi:10.1038/ng.580. PMC 2941216. PMID 20436469

Cone dystrophy (1,318 words) [view diff] exact match in snippet view article find links to article

rod dystrophy segregating with a loss-of-function mutation (E1087X) in ABCA4. Note the presence of various-shaped pigment deposits in the posterior pole

Craniofacial cleft (3,571 words) [view diff] exact match in snippet view article find links to article

craniofacial clefting include FGFRs, TWIST, MSXs, GREM1, TCOF1, PAXs, MAFB, ABCA4, and WNT allowing great cause for more research into the genetic basis for

List of distinct cell types in the adult human body (704 words) [view diff] exact match in snippet view article find links to article

1 Chrp_79 unknown unknown brain None None unknown None POU2AF1, TRPV4, ABCA4 Chrp_80 unknown unknown brain None None unknown None HS3ST3A1, RP11-690J15