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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

Citirajte ovaj rad

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, br. 11, 2010, str. 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, br. 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), str. 2714-2726. doi: 10.1002/ajmg.a.33709

Shaw AC, van Balkom ID, Bauer M, Cole TR, Delrue MA, Van Haeringen A, i sur.. Phenotype and Natural History in Marshall–Smith Syndrome. American Journal of Medical Genetics [Internet]. 2010. [pristupljeno 17.11.2024.];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, br. 11, str. 2714-2726, 2010. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:239:121548. [Citirano: 17.11.2024.]

Za citiranje koristite ovu mrežnu adresu: https://urn.nsk.hr/urn:nbn:hr:239:121548
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Podaci o radu
Naslov (engleski)Phenotype and Natural History in Marshall–Smith Syndrome
AutorAdam C. Shaw
AutorInge D.C. van Balkom
AutorMislen Bauer
AutorTrevor R.P. Cole
AutorMarie-Ange Delrue
AutorArie Van Haeringen
AutorEva Holmberg
AutorSamantha J.L. Knight
AutorGeert Mortier
AutorSheela Nampoothiri
AutorSilvija Pušeljić
MBZ: 263190
Autorova ustanova(Klinički bolnički centar Osijek)
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Temeljne medicinske znanosti
Genetika, genomika i proteomika čovjeka
Sažetak (engleski)
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.
Ključne riječi (engleski)
Jezikengleski
Vrsta publikacijeZnanstveni rad - Izvorni znanstveni rad
Status objaveObjavljen
Vrsta recenzijeRecenziran - međunarodna recenzija
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaAmerican Journal of Medical Genetics
Brojčani podacivol. 152, br. 11, str. 2714-2726
p-ISSN0148-7299
e-ISSN1096-8628
DOIhttps://doi.org/10.1002/ajmg.a.33709
URN:NBNurn:nbn:hr:239:121548
Datum objave publikacije2010
URL dokumentahttps://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.a.33709
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
Uvjeti korištenjaIkona licence Zaštićeno autorskim pravom.
Datum i vrijeme pohrane2020-03-31 07:13:14