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3. Mandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern China. Luo DQ; Wang XZ; Meng Y; He DY; Chen YM; Ke ZY; Yan M; Huang Y; Chen DF BMC Pediatr; 2014 Oct; 14():256. PubMed ID: 25286833 [TBL] [Abstract][Full Text] [Related]
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9. Hutchinson-Gilford progeria syndrome: clinical findings in three patients carrying the G608G mutation in LMNA and review of the literature. Mazereeuw-Hautier J; Wilson LC; Mohammed S; Smallwood D; Shackleton S; Atherton DJ; Harper JI Br J Dermatol; 2007 Jun; 156(6):1308-14. PubMed ID: 17459035 [TBL] [Abstract][Full Text] [Related]
10. A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS. Denecke J; Brune T; Feldhaus T; Robenek H; Kranz C; Auchus RJ; Agarwal AK; Marquardt T Hum Mutat; 2006 Jun; 27(6):524-31. PubMed ID: 16671095 [TBL] [Abstract][Full Text] [Related]
11. Skeletal phenotype of mandibuloacral dysplasia associated with mutations in ZMPSTE24. Cunningham VJ; D'Apice MR; Licata N; Novelli G; Cundy T Bone; 2010 Sep; 47(3):591-7. PubMed ID: 20550970 [TBL] [Abstract][Full Text] [Related]
12. Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation. Ben Yaou R; Navarro C; Quijano-Roy S; Bertrand AT; Massart C; De Sandre-Giovannoli A; Cadiñanos J; Mamchaoui K; Butler-Browne G; Estournet B; Richard P; Barois A; Lévy N; Bonne G Eur J Hum Genet; 2011 Jun; 19(6):647-54. PubMed ID: 21267004 [TBL] [Abstract][Full Text] [Related]
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