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Quoted phrase not found in phrase index: "Meier-Gorlin syndrome 8"
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The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome.
Nielsen-Dandoroff E, Ruegg MSG, Bicknell LS. Nielsen-Dandoroff E, et al. Eur J Hum Genet. 2023 Aug;31(8):859-868. doi: 10.1038/s41431-023-01359-z. Epub 2023 Apr 14. Eur J Hum Genet. 2023. PMID: 37059840 Free PMC article. Review.
Consequently, this hypothesis-free testing manner has revealed the true breadth of clinical features for many established genetic disorders, including Meier-Gorlin syndrome (MGORS). Previously known as ear-patella short stature syndrome, MGORS is characterize …
Consequently, this hypothesis-free testing manner has revealed the true breadth of clinical features for many established genetic disorders, …
Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis.
Nabais Sá MJ, Miller KA, McQuaid M, Koelling N, Wilkie AOM, Wurtele H, de Brouwer APM, Oliveira J. Nabais Sá MJ, et al. J Med Genet. 2022 Aug;59(8):776-780. doi: 10.1136/jmedgenet-2020-107572. Epub 2021 Aug 5. J Med Genet. 2022. PMID: 34353863 Free PMC article.
Pathogenic variants in genes coding for highly conserved components of the DNA replication machinery cause Meier-Gorlin syndrome (MGORS). OBJECTIVE: Identification of novel genes associated with MGORS. ...
Pathogenic variants in genes coding for highly conserved components of the DNA replication machinery cause Meier-Gorlin syn …
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 …
Successful pregnancies in an adult with Meier-Gorlin syndrome harboring biallelic CDT1 variants.
Knapp KM, Murray J, Temple IK, Bicknell LS. Knapp KM, et al. Am J Med Genet A. 2021 Mar;185(3):871-876. doi: 10.1002/ajmg.a.62016. Epub 2020 Dec 18. Am J Med Genet A. 2021. PMID: 33338304
Meier-Gorlin syndrome is an autosomal recessively inherited disorder of growth retardation, accompanied by microtia and patellae a/hypoplasia and characteristic facies. ...At 49 years, she represents the oldest patient with a molecular diagnosis described in …
Meier-Gorlin syndrome is an autosomal recessively inherited disorder of growth retardation, accompanied by microtia and …
High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing.
Kim YM, Lee YJ, Park JH, Lee HD, Cheon CK, Kim SY, Hwang JY, Jang JH, Yoo HW. Kim YM, et al. Clin Genet. 2017 Dec;92(6):594-605. doi: 10.1111/cge.13038. Epub 2017 Aug 30. Clin Genet. 2017. PMID: 28425089
We applied targeted exome sequencing using the Next Seq platform and a TruSight One panel. RESULTS: Among the 13 families, 6 different disorders in 8 patients with short stature or overgrowth were identified, and the diagnostic yield was 46.2%. ...In the short stature grou …
We applied targeted exome sequencing using the Next Seq platform and a TruSight One panel. RESULTS: Among the 13 families, 6 different disor …