Atelosteogenesis type I is a rare autosomal dominant condition. This condition is evident at birth and is associated with a very poor prognosis for the...
8 KB (687 words) - 03:47, 2 August 2024
Acrocephalosyndactyly type I Acrofrontofacionasal dysostosis type 2 Aneurysm-osteoarthritis syndrome Antley-Bixler syndrome Atelosteogenesis type I Autism spectrum...
11 KB (1,097 words) - 03:17, 9 August 2024
telangiectasia Ataxia telangiectasia variant V1 Atelectasis Atelosteogenesis type I Atelosteogenesis, type II Athabaskan brain stem dysgenesis Atherosclerosis...
24 KB (1,972 words) - 21:28, 16 August 2024
several lethal bone dysplasias, including boomerang dysplasia and atelosteogenesis type I. FLNB has been shown to interact with GP1BA, Filamin, FBLIM1, PSEN1...
11 KB (1,335 words) - 13:21, 8 September 2023
Osteogenesis imperfecta (redirect from OI type I)
clinically defined types: type I, the least severe; type IV, moderately severe; type III, severe and progressively deforming; and type II, perinatally lethal...
150 KB (15,385 words) - 15:16, 26 September 2024
otopalatodigital syndrome type II: phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal...
8 KB (824 words) - 18:26, 23 August 2024
theory Type-II superconductor Type II supernova Type 2 sequence Activin type 2 receptors Atelosteogenesis, type II Belgian State Railways Type 2, a class...
2 KB (336 words) - 11:39, 21 June 2024
dysplasia are similar to those of another skeletal disorder called atelosteogenesis, type 2; however diastrophic dysplasia tends to be less severe. It is...
5 KB (434 words) - 23:50, 6 March 2024
Ballhausen D, Superti-Furga A (2014-01-23). "SLC26A2-Related Atelosteogenesis". Atelosteogenesis Type 2. University of Washington, Seattle. PMID 20301493. NBK1317...
23 KB (2,881 words) - 05:40, 22 December 2023
Achondrogenesis type 1B Atelosteogenesis, type II Bipolar disorder Bosch-Boonstra-Schaaf optic atrophy syndrome Charcot–Marie–Tooth disease, type 4 Cockayne...
32 KB (2,298 words) - 22:55, 28 March 2024
disorder; 604391; MRE11A Atelosteogenesis II; 256050; SLC26A2 Atelosteogenesis, type III; 108721; FLNB Atelostogenesis, type I; 108720; FLNB Athabaskan...
234 KB (18,877 words) - 15:43, 9 May 2024
Chapelle dysplasia" (DLCD; OMIM #256050). An alternative name is Atelosteogenesis type 2. De la Chapelle decided to begin to clarify the genetic basis...
20 KB (2,462 words) - 12:57, 25 May 2024
diastrophic dysplasia, chondrodysplasia punctata, camptomelic dysplasia, atelosteogenesis, and mesomelic dysplasia. Neuromuscular and Neurologic abnormalities:...
46 KB (5,577 words) - 12:12, 15 August 2024