Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjögren syndrome

C. Lagier-Tourenne (1) , D. Chaigne (2) , J. Gong (3) , J. Flori (4) , M. Mohr (5) , D. Ruh , D. Christmann (3) , J. Flament (3) , Jean-Louis Mandel (1) , Michel Koenig (1) , Hélène Dollfus (3)

1 IGBMC - Institut de génétique et biologie moléculaire et cellulaire
2 Clinique Sainte-Odile, Strasbourg
3 HUS - Les Hôpitaux Universitaires de Strasbourg
4 Centre Médico-Chirurgical et Obstétrical
5 Faculté de médecine maïeutique et sciences de la santé [Strasbourg]

No abstract available

Domains: Genetics

C. Lagier-Tourenne, D. Chaigne, J. Gong, J. Flori, M. Mohr, et al.. Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjögren syndrome. Journal of Medical Genetics, 2002, 39 (11), pp.838-843. ⟨10.1136/jmg.39.11.838⟩. ⟨hal-04145111⟩