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Quoted phrase not found in phrase index: "Meier-Gorlin syndrome 3"
Page 1
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 …
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 …
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, …
Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test.
Nazarenko MS, Viakhireva IV, Skoblov MY, Soloveva EV, Sleptcov AA, Nazarenko LP. Nazarenko MS, et al. Int J Mol Sci. 2022 Aug 17;23(16):9234. doi: 10.3390/ijms23169234. Int J Mol Sci. 2022. PMID: 36012502 Free PMC article.
Skeletal symptoms overlapping with other syndromes make MGS difficult to diagnose clinically. We describe a 3-year-old boy with short stature, recurrent respiratory infections, short-rib dysplasia, tower head and facial dysmorphisms who was admitted to the Tomsk Genetic Cl …
Skeletal symptoms overlapping with other syndromes make MGS difficult to diagnose clinically. We describe a 3-year-old boy with short …
The Meier-Gorlin syndrome, or ear-patella-short stature syndrome, in sibs.
Loeys BL, Lemmerling MM, Van Mol CE, Leroy JG. Loeys BL, et al. Am J Med Genet. 1999 May 7;84(1):61-7. Am J Med Genet. 1999. PMID: 10213048
The Meier-Gorlin syndrome, first described by Meier and Rothschild [1959: Helv Paediatr Acta 14:213-216] and further delineated by Gorlin et al. [1975: A Selected Miscellany, p 39-50], is characterized by short stature, slender body build, craniofacial anomal …
The Meier-Gorlin syndrome, first described by Meier and Rothschild [1959: Helv Paediatr Acta 14:213-216] and further de …
MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency.
Knapp KM, Jenkins DE, Sullivan R, Harms FL, von Elsner L, Ockeloen CW, de Munnik S, Bongers EMHF, Murray J, Pachter N, Denecke J, Kutsche K, Bicknell LS. Knapp KM, et al. Eur J Hum Genet. 2021 Jul;29(7):1110-1120. doi: 10.1038/s41431-021-00839-4. Epub 2021 Mar 2. Eur J Hum Genet. 2021. PMID: 33654309 Free PMC article.
The MCM2-7 helicase is a heterohexameric complex with essential roles as part of both the pre-replication and pre-initiation complexes in the early stages of DNA replication. Meier-Gorlin syndrome, a rare primordial dwarfism, is strongly associated with disru …
The MCM2-7 helicase is a heterohexameric complex with essential roles as part of both the pre-replication and pre-initiation complexes in th …
Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly.
Sabbagh Q, Tharreau M, Cenni C, Sanchez E, Ruiz-Pallares N, Alkar F, Amouroux C, David S, Prodhomme O, Leboucq N, Meunier I, Bessis D, Theron A, Barat-Houari M, Willems M. Sabbagh Q, et al. Eur J Med Genet. 2023 May;66(5):104733. doi: 10.1016/j.ejmg.2023.104733. Epub 2023 Feb 25. Eur J Med Genet. 2023. PMID: 36842471
Autosomal recessive primary microcephaly type 3 (MCPH3) caused by pathogenic variations in CDK5RAP2, is characterized by sensorineural hearing loss, abnormality of skin pigmentation, ocular defects and severe microcephaly associated with neurodevelopmental delay. ...
Autosomal recessive primary microcephaly type 3 (MCPH3) caused by pathogenic variations in CDK5RAP2, is characterized by sensorineura …
Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities.
Karaca E, Posey JE, Bostwick B, Liu P, Gezdirici A, Yesil G, Coban Akdemir Z, Bayram Y, Harms FL, Meinecke P, Alawi M, Bacino CA, Sutton VR, Kortüm F, Lupski JR. Karaca E, et al. Am J Med Genet A. 2019 Oct;179(10):2056-2066. doi: 10.1002/ajmg.a.61315. Epub 2019 Aug 13. Am J Med Genet A. 2019. PMID: 31407851 Free PMC article.

We identified four unrelated families with five affected individuals having biallelic or de novo variants in DONSON presenting with a core phenotype of severe short stature (z score < -3 SD), additional skeletal abnormalities, and microcephaly. Two apparently unrelated

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We identified four unrelated families with five affected individuals having biallelic or de novo variants in DONSON presenting with a core p …
Further insight into the phenotype associated with a mutation in the ORC6 gene, causing Meier-Gorlin syndrome 3.
Shalev SA, Khayat M, Etty DS, Elpeleg O. Shalev SA, et al. Am J Med Genet A. 2015 Mar;167A(3):607-11. doi: 10.1002/ajmg.a.36906. Am J Med Genet A. 2015. PMID: 25691413
Mutations in genes encoding the origin recognition complex subunits cause Meier-Gorlin syndrome. The disease manifests a triad of short stature, small ears, and small and/or absent patellae with variable expressivity. ...The phenotype included severe intraute …
Mutations in genes encoding the origin recognition complex subunits cause Meier-Gorlin syndrome. The disease manifests …