Sox2 anophthalmia syndrome
Web16. feb 2011 · Bakrania P, Robinson DO, Bunyan DJ et al: SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. … WebCHARGE syndrome (CHARGE association: Coloboma of iris/retina, heart anomaly, atresia choanae, retarded growth and development, genital and ear anomalies) ... Anophthalmia (無眼球) [HP:0000528] [06605] Anterior hypopituitarism (下垂体前葉機能低下) [HP:0000830] [2110] Aortic arch aneurysm (大動脈弓動脈瘤) [HP:0005113] [1120 ...
Sox2 anophthalmia syndrome
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WebSOX2 anophthalmia syndrome is a rare disorder characterized by abnormal development of the eyes and other parts of the body. People with SOX2 anophthalmia syndrome are … WebThe SOX2 phenotypes include a patient with anophthalmia, oesophageal abnormalities and horseshoe kidney, and a patient with a retinal dystrophy implicating SOX2 in retinal development. Conclusion: Our results provide further evidence that SOX2 haploinsufficiency is a common cause of severe developmental ocular malformations and that background ...
WebSOX2 anophthalmia syndrome. This is a rare disorder that can cause a child to be born without eyeballs. It can also cause seizures, brain problems, and delayed growth. Triple X … WebSOX2 anophthalmia syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases …
WebDescription. SOX2 anophthalmia syndrome is a rare disorder characterized by abnormal development of the eyes and other parts of the body. People with SOX2 anophthalmia syndrome are usually born without eyeballs (anophthalmia), although some individuals … WebA Biblioteca Virtual em Saúde é uma colecao de fontes de informacao científica e técnica em saúde organizada e armazenada em formato eletrônico nos países da Região Latino-Americana e do Caribe, acessíveis de forma universal na Internet de modo compatível com as bases internacionais.
WebSOX2, with NMYC and CHD7, is now the third transcriptional regulator known to be critical for normal oesophageal development in humans. AB - We report heterozygous, loss-of …
WebRare Disease Name Disease Aliases Associated Genes Gene Disease Annotations Disease Annotations Disease IDs OMIM Orphanet UMLS Mesh ICD10CM Gene Descriptions historic oakland cemetery atlanta gaWebSOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. Br J Ophthalmol. 2007; 91(11):1471-6 (ISSN: 0007 … historic oak hill innWebSOX2 anophthalmia syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases … honda civic 2013 oil change intervalWeb16. mar 2006 · Anophthalmia-Esophageal-Genital (AEG) syndrome (OMIM 600992) is an association of anophthalmia/microphthalmia, oesophageal atresia with or without tracheo … honda civic 2013 recallsWebSOX2 anophthalmia syndrome. Also known as: AEG syndrome, Anophthalmia-esophageal-genital syndrome, SOX2-related eye disorders, syndromic microphthalmia 3. honda civic 2013 owners manualWeb15. máj 2005 · SOX2 is a single exon transcription factor previously associated with anophthalmia [18, 19], microphthalmia [20], and coloboma [21]. Sox2 is involved in … historic oakland cemeteryWebHeterozygous, de novo, loss-of-function mutations in SOX2 have been shown to cause bilateral anophthalmia. Here we provide a detailed description of the clinical features … honda civic 2013 oil change