prikaz prve stranice dokumenta Phenotype and Natural History in Marshall–Smith Syndrome
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Scientific paper - Original scientific paper
Phenotype and Natural History in Marshall–Smith Syndrome
American Journal of Medical Genetics, 152 (2010), 11; 2714-2726. https://doi.org/10.1002/ajmg.a.33709
Shaw, Adam C.; van Balkom, Inge D.C.; Bauer, Mislen; Cole, Trevor R.P.; Delrue, Marie-Ange; Van Haeringen, Arie; Holmberg, Eva; Knight, Samantha J.L.; Mortier, Geert; Nampoothiri, Sheela; Pušeljić, Silvija

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Shaw, A. C., van Balkom, I. D., Bauer, M., Cole, T. R., Delrue, M. A., Van Haeringen, A. ... Pušeljić, S. (2010). Phenotype and Natural History in Marshall–Smith Syndrome. American Journal of Medical Genetics, 152. (11), 2714-2726. doi: 10.1002/ajmg.a.33709

Shaw, Adam C., et al. "Phenotype and Natural History in Marshall–Smith Syndrome." American Journal of Medical Genetics, vol. 152, no. 11, 2010, pp. 2714-2726. https://doi.org/10.1002/ajmg.a.33709

Shaw, Adam C., Inge D.C. van Balkom, Mislen Bauer, Trevor R.P. Cole, Marie Ange Delrue, Arie Van Haeringen, Eva Holmberg, et al. "Phenotype and Natural History in Marshall–Smith Syndrome." American Journal of Medical Genetics 152, no. 11 (2010): 2714-2726. https://doi.org/10.1002/ajmg.a.33709

Shaw, A. C., et al. (2010) 'Phenotype and Natural History in Marshall–Smith Syndrome', American Journal of Medical Genetics, 152(11), pp. 2714-2726. doi: 10.1002/ajmg.a.33709

Shaw AC, van Balkom ID, Bauer M, Cole TR, Delrue MA, Van Haeringen A, and sur.. Phenotype and Natural History in Marshall–Smith Syndrome. American Journal of Medical Genetics [Internet]. 2010 [cited 2024 November 20];152(11):2714-2726. doi: 10.1002/ajmg.a.33709

A. C. Shaw, et al., "Phenotype and Natural History in Marshall–Smith Syndrome", American Journal of Medical Genetics, vol. 152, no. 11, pp. 2714-2726, 2010. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:239:121548. [Accessed: 20 November 2024]

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Metadata
Title (english)Phenotype and Natural History in Marshall–Smith Syndrome
AuthorAdam C. Shaw
AuthorInge D.C. van Balkom
AuthorMislen Bauer
AuthorTrevor R.P. Cole
AuthorMarie-Ange Delrue
AuthorArie Van Haeringen
AuthorEva Holmberg
AuthorSamantha J.L. Knight
AuthorGeert Mortier
AuthorSheela Nampoothiri
AuthorSilvija Pušeljić
MBZ: 263190
Author's institution(Clinical hospital center Osijek)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Basic Medical Sciences
Human Genetics, Genomics and Proteomics
Abstract (english)
Marshall-Smith syndrome (MSS) is a distinctive entity of unknown etiology with fewer than 50 patients described in the medical literature to date. Through an International collaboration and use of an online wiki to facilitate data collection and sharing, we further delineate the phenotype and natural history of this syndrome. We present 15 new patients, the oldest being 30 years, provide an update on four previously published cases, and compare all patients with other patients reported in literature. Main clinical features are moderate to severe developmental delay with absent or limited speech, unusual behavior, dysharmonic bone maturation, respiratory compromise secondary to upper airway obstruction, short stature, and kyphoscoliosis. Facial features are characteristic with high forehead, underdeveloped midface, proptosis, anteverted nares, and everted lips. Minor abnormalities of brain morphology such as hypoplasia of the corpus callosum are common. Mortality from respiratory complications is high, but airway support increasingly allows survival into adulthood. Array-CGH was performed on 12 of the cohort and no copy number variants of clear clinical relevance were identified. The present study is the first reported use of an online wiki to aid delineation of a genetic syndrome, and illustrates its value in collecting detailed data in rare conditions.
Keywords (english)
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review - international
Publication versionPublished version
Journal titleAmerican Journal of Medical Genetics
Numberingvol. 152, no. 11, pp. 2714-2726
p-ISSN0148-7299
e-ISSN1096-8628
DOIhttps://doi.org/10.1002/ajmg.a.33709
URN:NBNurn:nbn:hr:239:121548
Publication2010
Document URLhttps://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.a.33709
Type of resourceText
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2020-03-31 07:13:14