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Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia.
Michot C, Le Goff C, Blair E, Blanchet P, Capri Y, Gilbert-Dussardier B, Goldenberg A, Henderson A, Isidor B, Kayserili H, Kinning E, Le Merrer M, Lyonnet S, Odent S, Simsek-Kiper PO, Quelin C, Savarirayan R, Simon M, Splitt M, Verhagen JMA, Verloes A, Munnich A, Baujat G, Cormier-Daire V. Michot C, et al. Among authors: verloes a. Eur J Hum Genet. 2018 Nov;26(11):1611-1622. doi: 10.1038/s41431-018-0135-1. Epub 2018 Jul 13. Eur J Hum Genet. 2018. PMID: 30006632 Free PMC article.
The orocraniodigital syndrome of Juberg and Hayward.
Verloes A, Le Merrer M, Davin JC, Wittamer P, Abrassart C, Bricteux G, Briard ML. Verloes A, et al. J Med Genet. 1992 Apr;29(4):262-5. doi: 10.1136/jmg.29.4.262. J Med Genet. 1992. PMID: 1583649 Free PMC article. Review.
Metaphyseal acroscyphodysplasia.
Verloes A, Le Merrer M, Farriaux JP, Maroteaux P. Verloes A, et al. Clin Genet. 1991 May;39(5):362-9. doi: 10.1111/j.1399-0004.1991.tb03043.x. Clin Genet. 1991. PMID: 1860252
BBBG syndrome or Opitz syndrome: new family.
Verloes A, Le Merrer M, Briard ML. Verloes A, et al. Am J Med Genet. 1989 Nov;34(3):313-6. doi: 10.1002/ajmg.1320340303. Am J Med Genet. 1989. PMID: 2688419 Review.
Osteocraniostenosis.
Verloes A, Narcy F, Grattagliano B, Delezoide AL, Guibaud P, Schaaps JP, Le Merrer M, Maroteaux P. Verloes A, et al. J Med Genet. 1994 Oct;31(10):772-8. doi: 10.1136/jmg.31.10.772. J Med Genet. 1994. PMID: 7837254 Free PMC article.
503 results