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Quoted phrase not found in phrase index: "Meier-Gorlin syndrome 3"
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Defining the progeria phenome.
Worm C, Schambye MER, Mkrtchyan GV, Veviorskiy A, Shneyderman A, Ozerov IV, Zhavoronkov A, Bakula D, Scheibye-Knudsen M. Worm C, et al. Aging (Albany NY). 2024 Feb 9;16(3):2026-2046. doi: 10.18632/aging.205537. Epub 2024 Feb 9. Aging (Albany NY). 2024. PMID: 38345566 Free PMC article.
We detected that ataxia-telangiectasia like disorder 2, spastic paraplegia 49 and Meier-Gorlin syndrome display strong association to progeroid syndromes, thereby implying that the syndromes are previously unrecognized progerias. ...
We detected that ataxia-telangiectasia like disorder 2, spastic paraplegia 49 and Meier-Gorlin syndrome display strong …
Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder.
de Munnik SA, Otten BJ, Schoots J, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Borm GF, Clayton-Smith J, Deal CL, Edrees AY, Feingold M, Fryer A, van Hagen JM, Hennekam RC, Jansweijer MC, Johnson D, Kant SG, Opitz JM, Ramadevi AR, Reardon W, Ross A, Sarda P, Schrander-Stumpel CT, Sluiter AE, Temple IK, Terhal PA, Toutain A, Wise CA, Wright M, Skidmore DL, Samuels ME, Hoefsloot LH, Knoers NV, Brunner HG, Jackson AP, Bongers EM. de Munnik SA, et al. Am J Med Genet A. 2012 Nov;158A(11):2733-42. doi: 10.1002/ajmg.a.35681. Epub 2012 Sep 28. Am J Med Genet A. 2012. PMID: 23023959
Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by primordial dwarfism, microtia, and patellar aplasia/hypoplasia. ...Growth hormone therapy (n = 9) was generally ineffective, though in two patients with significantly reduced …
Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by primordial dwarfism, microtia, and …
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.
de Munnik SA, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Clayton-Smith J, Edrees AY, Feingold M, Fryer A, van Hagen JM, Hennekam RC, Jansweijer MC, Johnson D, Kant SG, Opitz JM, Ramadevi AR, Reardon W, Ross A, Sarda P, Schrander-Stumpel CT, Schoots J, Temple IK, Terhal PA, Toutain A, Wise CA, Wright M, Skidmore DL, Samuels ME, Hoefsloot LH, Knoers NV, Brunner HG, Jackson AP, Bongers EM. de Munnik SA, et al. Eur J Hum Genet. 2012 Jun;20(6):598-606. doi: 10.1038/ejhg.2011.269. Epub 2012 Feb 15. Eur J Hum Genet. 2012. PMID: 22333897 Free PMC article.
Meier-Gorlin syndrome (MGS) is an autosomal recessive disorder characterized by microtia, patellar aplasia/hypoplasia, and short stature. ...Here, we report on genotype-phenotype studies in 45 individuals with MGS (27 females, 18 males; age 3 months-47 …
Meier-Gorlin syndrome (MGS) is an autosomal recessive disorder characterized by microtia, patellar aplasia/hypoplasia, …