Orphanet Journal of Rare Diseases volume 19, Article number: 119 (2024) Cite this article 1090 Accesses 2 Citations 2 Altmetric Metrics details Abstract Background Individuals with Turner syndrome (TS, ORPHA 881) experience barriers in communication throughout life as they navigate both early ...
Orphanet. J. Rare. Dis. 10, 153 (2015). PubMed PubMed Central Google Scholar Beighton, P. et al. International nosology of heritable disorders of connective tissue, Berlin, 1986. Am. J. Med. Genet. 29, 581–594 (1988). CAS PubMed Google Scholar Fuchs, J. Marfan syndrome and ...
Orphanet J Rare Dis. 2021;16(1):43. Article PubMed PubMed Central Google Scholar Leoni C, Stevenson DA, Martini L, De Sanctis R, Mascolo G, Pantaleoni F, et al. Decreased bone mineral density in Costello syndrome. Mol Genet Metab. 2014;111(1):41–5. Article CAS PubMed Google ...
The majority of complement mutations are heterozygous in aHUS patients.De novomutations are exceptional and the same mutation is almost constantly present in one parent -generally healthy-of the propositus [18]. Penetrance of complement-aHUS has been found to be only approximately 50% as half of ...
Orphanet J Rare Dis. 2015;10:157. Walia S, Fishman GA, Hajali M. Prevalence of cystic macular lesions in patients with Usher II syndrome. Eye. 2008;23:1206–9. Article Google Scholar Tsilou ET, Rubin BI, Caruso RC, Reed GF, Pikus A, Hejtmancik JF, et al. Usher syndrome ...
The vast majority (85%) of subjects with AS have an X-linked disease (XLAS; Online Mendelian Inheritance in Man number #301050; Orphanet rare disease nomenclature [ORPHA]: 88917) and harbor pathogenic variants in the COL4A5 gene, encoding collagen type IVα 5 chain.1 To date, several ...
2013, Orphanet Journal of Rare Diseases The ins and outs of phospholipid asymmetry in the plasma membrane: Roles in health and disease 2009, Critical Reviews in Biochemistry and Molecular Biology Cardiolipin, the heart of mitochondrial metabolism 2008, Cellular and Molecular Life Sciences Clearance of...
Orphanet Journal of Rare Diseases volume 4, Article number: 11 (2009) Cite this article 20k Accesses 3 Altmetric Metrics details Abstract Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face,...
Synonyms and Related Disorders Craniocarpotarsal dysplasia; “Whistling Face” syndrome Genetics/Basic Defects 1. Caused by mutations in embryonic myosin heavy chain gene (MYH3) (Toydemir et al.2006). Sheldon–Hall syndrome (SHS) is known to be caused by mutations in eitherMYH3,TNNT2, orTNNT...
Toydemir, R. M., & Bamshad, M. J. (2009). Sheldon-Hall syndrome.Orphanet Journal of Rare Diseases, 4, 11. ArticlePubMedPubMed CentralGoogle Scholar Toydemir, R. M., Rutherford, A., Whitby, R. G., et al. (2006). Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-...