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Quoted phrase not found in phrase index: "Meier-Gorlin syndrome 4"
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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. ...Here, we report that growth velocity (length) is impaired in MGS during pregnancy and first year of life, bu …
Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by primordial dwarfism, microtia, and …
Human syndromes with congenital patellar anomalies and the underlying gene defects.
Bongers EM, van Kampen A, van Bokhoven H, Knoers NV. Bongers EM, et al. Clin Genet. 2005 Oct;68(4):302-19. doi: 10.1111/j.1399-0004.2005.00508.x. Clin Genet. 2005. PMID: 16143015 Review.
In this review, the phenotype and gene defects of syndromes with congenital patellar aplasia or hypoplasia will be discussed, including the nail patella syndrome, small patella syndrome, isolated patella aplasia hypoplasia, Meier-Gorlin syndrome, RAPADILINO s …
In this review, the phenotype and gene defects of syndromes with congenital patellar aplasia or hypoplasia will be discussed, including the …
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
In the short stature group, Coffin-Lowry syndrome (CLS), trichorhinophalangeal syndrome, DYRK1A haploinsufficiency syndrome, short stature with optic atrophy and Pelger-Huet anomaly syndrome with recurrent hepatitis, and type 4 Meier-Gorlin syndrome we …
In the short stature group, Coffin-Lowry syndrome (CLS), trichorhinophalangeal syndrome, DYRK1A haploinsufficiency syndrome, short stature w …
A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features.
Akalın A, Şimşek-Kiper PÖ, Taşkıran EZ, Karaosmanoğlu B, Utine GE, Boduroğlu K. Akalın A, et al. Am J Med Genet A. 2023 Apr;191(4):1119-1127. doi: 10.1002/ajmg.a.63120. Epub 2023 Jan 11. Am J Med Genet A. 2023. PMID: 36630262
Microcephalic osteodysplastic primordial dwarfism (MOPD) types I/III, II, and Meier-Gorlin syndrome. In recent years with the wide application of exome sequencing (ES) in the field of PD, new genes involved in novel pathways causing new phenotypes have been i …
Microcephalic osteodysplastic primordial dwarfism (MOPD) types I/III, II, and Meier-Gorlin syndrome. In recent years wi …