Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

Author:

de Munnik Sonja A,Bicknell Louise S,Aftimos Salim,Al-Aama Jumana Y,van Bever Yolande,Bober Michael B,Clayton-Smith Jill,Edrees Alaa Y,Feingold Murray,Fryer Alan,van Hagen Johanna M,Hennekam Raoul C,Jansweijer Maaike C E,Johnson Diana,Kant Sarina G,Opitz John M,Ramadevi A Radha,Reardon Willie,Ross Alison,Sarda Pierre,Schrander-Stumpel Constance T R M,Schoots Jeroen,Temple I Karen,Terhal Paulien A,Toutain Annick,Wise Carol A,Wright Michael,Skidmore David L,Samuels Mark E,Hoefsloot Lies H,Knoers Nine V A M,Brunner Han G,Jackson Andrew P,Bongers Ernie M H F

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference31 articles.

1. Meier Z, Poschiavo, Rothschild M : [Case of arthrogryposis multiplex congenita with mandibulofacial dysostosis (franceschetti syndrome).]. Helv Paediatr Acta 1959; 14: 213–216.

2. Gorlin RJ, Cervenka J, Moller K, Horrobin M, Witkop Jr CJ : Malformation syndromes. A selected miscellany. Birth Defects Orig Artic Ser 1975; 11: 39–50.

3. Bongers EM, Opitz JM, Fryer A et al: Meier-Gorlin syndrome: report of eight additional cases and review. Am J Med Genet 2001; 102: 115–124.

4. Terhal PA, Ausems MG, Van Bever Y, Kate LP, Dijkstra PF, Kuijpers GM : Breast hypoplasia and disproportionate short stature in the ear, patella, short stature syndrome: expansion of the phenotype? J Med Genet 2000; 37: 719–721.

5. Shalev SA, Hall JG : Another adult with Meier-Gorlin syndrome--insights into the natural history. Clin Dysmorphol 2003; 12: 167–169.

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