Literature DB >> 11182936

Breast hypoplasia and disproportionate short stature in the ear, patella, short stature syndrome: expansion of the phenotype?

P A Terhal, M G Ausems, Y Van Bever, L P Kate, P F Dijkstra, G M Kuijpers.   

Abstract

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Year:  2000        PMID： 11182936      PMCID： PMC1734706          DOI： 10.1136/jmg.37.9.719

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  2 in total

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

Authors:  Sonja A de Munnik; Louise S Bicknell; Salim Aftimos; Jumana Y Al-Aama; Yolande van Bever; Michael B Bober; Jill Clayton-Smith; Alaa Y Edrees; Murray Feingold; Alan Fryer; Johanna M van Hagen; Raoul C Hennekam; Maaike C E Jansweijer; Diana Johnson; Sarina G Kant; John M Opitz; A Radha Ramadevi; Willie Reardon; Alison Ross; Pierre Sarda; Constance T R M Schrander-Stumpel; Jeroen Schoots; I Karen Temple; Paulien A Terhal; Annick Toutain; Carol A Wise; Michael Wright; David L Skidmore; Mark E Samuels; Lies H Hoefsloot; Nine V A M Knoers; Han G Brunner; Andrew P Jackson; Ernie M H F Bongers
Journal:  Eur J Hum Genet       Date:  2012-02-15       Impact factor: 4.246

Review 2.  Meier-Gorlin syndrome.

Authors:  Sonja A de Munnik; Elisabeth H Hoefsloot; Jolt Roukema; Jeroen Schoots; Nine V A M Knoers; Han G Brunner; Andrew P Jackson; Ernie M H F Bongers
Journal:  Orphanet J Rare Dis       Date:  2015-09-17       Impact factor: 4.123
  2 in total

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