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American Journal of Medical Genetics|August 17, 1999
Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndromeS Briault, S Odent, J Lucas, et al.Acta Neuropathologica|January 1, 1995
Developmental aspects of type II lissencephaly. Comparative study of dysplastic lesions in fetal and post-natal brainsA Gelot, T Billette de Villemeur, C Bordarier, et al.Prenatal Diagnosis|October 16, 2002
Prenatal diagnosis of trisomy 21 by i(21q): a rare case of fetoplacental chromosomal discrepancyJ L Gilardi, F Perrotin, C Paillet, et al.American Journal of Human Genetics|March 1, 1996
Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemiaL Villard, A Toutain, A M Lossi, et al.Annales D'Oto-Laryngologie Et De Chirurgie Cervico Faciale : Bulletin De La Societe D'Oto-Laryngologie Des Hopitaux De Paris|January 1, 1983
[2 uncommon malformations of the nose. Attempt at an explanation]M J Ployet, B Loustalot, C Moraine, et al.Journal of Medical Genetics|February 1, 1988
Lethal acrodysgenital dwarfism: a severe lethal condition resembling Smith-Lemli-Opitz syndromeM L Merrer, M L Briard, S Girard, et al.Annales De Dermatologie Et De Venereologie|January 1, 1984
[Albright's hereditary osteodystrophy with multiple cutaneous osteomas]G Lorette, J P Valat, P Gatti, et al.Clinical Genetics|October 19, 2010
The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated malesD Germanaud, M Rossi, G Bussy, et al.Archives Francaises De Pediatrie|August 1, 1988
[Lethal syndromes with thin bones]P Maroteaux, L Cohen-Solal, J Bonaventure, et al.Annales De Genetique|January 1, 1984
[Association of VACTERL and hydrocephalus: a new familial entity]M L Briard, M le Merrer, H Plauchu, et al.Pageof 11