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Genotype- phenotype correlation in trisomy X: a retrospective study of a selected group of 36 patients and review of literature.
Butnariu L, Rusu C, Caba L, Pânzaru M, Braha E, Grămescu M, Popescu R, Bujoranu C, Gorduza EV. Butnariu L, et al. Rev Med Chir Soc Med Nat Iasi. 2013 Jul-Sep;117(3):714-21. Rev Med Chir Soc Med Nat Iasi. 2013. PMID: 24502039 Review.
RESULTS: Clinical signs detected in patients with homogeneous trisomy X 47,XXX (22.22%), mosaic 46,XX/47,XXX (16.66%) or 47,XXX/48,XXXX (5.55%) were prepubertal, growth retardation associated with dysmorphic facial (upslanted palpebral fissure, epichantus, th …
RESULTS: Clinical signs detected in patients with homogeneous trisomy X 47,XXX (22.22%), mosaic 46,XX/47,XXX (16.66%) or 47,XXX/48,XXXX (5.5 …
Clinical versus automated assessments of morphological variants in twins with and without neurodevelopmental disorders.
Myers L, Anderlid BM, Nordgren A, Lundin K, Kuja-Halkola R, Tammimies K, Bölte S. Myers L, et al. Am J Med Genet A. 2020 May;182(5):1177-1189. doi: 10.1002/ajmg.a.61545. Epub 2020 Mar 12. Am J Med Genet A. 2020. PMID: 32162839
Common facial morphological variants in those with and without NDDs were similar and included thick upper lip vermilion, abnormality of the nasal tip, long face, and upslanted palpebral fissure. We conclude that although facial morphological variants can be a …
Common facial morphological variants in those with and without NDDs were similar and included thick upper lip vermilion, abnormality of the …