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Hypertrichosis cubiti: two new cases and a review of the literature.
Visser R, Beemer FA, Veenhoven RH, De Nef JJ. Visser R, et al. Genet Couns. 2002;13(4):397-403. Genet Couns. 2002. PMID: 12558109 Review.
Two cases of hypertrichosis cubiti in combination with short stature, facial dysmorphias and retarded development are reported with a review of the literature. Hypertrichosis cubiti, the hairy elbows syndrome, consist …
Two cases of hypertrichosis cubiti in combination with short stature, facial dysmorphias and retarded developmen …
A new case of hairy elbows syndrome (Hypertrichosis cubiti).
Escalonilla P, Aguilar A, Gallego M, Piqué E, Fariña MC, Requena L. Escalonilla P, et al. Pediatr Dermatol. 1996 Jul-Aug;13(4):303-5. doi: 10.1111/j.1525-1470.1996.tb01245.x. Pediatr Dermatol. 1996. PMID: 8844750 Review.
Hypertrichosis cubiti, also named hairy elbows syndrome (HES), is an uncommon variety of congenital, circumscribed hypertrichosis in which a remarkable amount of long vellus hair is localized on the extensor surfaces of the upper extremit …
Hypertrichosis cubiti, also named hairy elbows syndrome (HES), is an uncommon variety of congenital, circ …
Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome.
Sun Y, Hu G, Liu H, Zhang X, Huang Z, Yan H, Wang L, Fan Y, Gu X, Yu Y. Sun Y, et al. Am J Med Genet A. 2017 Feb;173(2):510-514. doi: 10.1002/ajmg.a.38025. Epub 2016 Oct 19. Am J Med Genet A. 2017. PMID: 27759909 Review.
KMT2A mutations cause Wiedemann-Steiner syndrome (WDSTS), which is characterized by hypertrichosis cubiti, short stature, and distinct facial features in general. ...They have generalized hypertrichosis. A hairy back can be observe …
KMT2A mutations cause Wiedemann-Steiner syndrome (WDSTS), which is characterized by hypertrichosis cubiti, short …
Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases.
Baer S, Afenjar A, Smol T, Piton A, Gérard B, Alembik Y, Bienvenu T, Boursier G, Boute O, Colson C, Cordier MP, Cormier-Daire V, Delobel B, Doco-Fenzy M, Duban-Bedu B, Fradin M, Geneviève D, Goldenberg A, Grelet M, Haye D, Heron D, Isidor B, Keren B, Lacombe D, Lèbre AS, Lesca G, Masurel A, Mathieu-Dramard M, Nava C, Pasquier L, Petit A, Philip N, Piard J, Rondeau S, Saugier-Veber P, Sukno S, Thevenon J, Van-Gils J, Vincent-Delorme C, Willems M, Schaefer E, Morin G. Baer S, et al. Clin Genet. 2018 Jul;94(1):141-152. doi: 10.1111/cge.13254. Epub 2018 May 17. Clin Genet. 2018. PMID: 29574747 Review.
Wiedemann-Steiner syndrome (WSS) is a rare syndromic condition in which intellectual disability (ID) is associated with hypertrichosis cubiti, short stature, and characteristic facies. ...Clinically, we observed a broad phenotypic spectru …
Wiedemann-Steiner syndrome (WSS) is a rare syndromic condition in which intellectual disability (ID) is associated with hyp …