Experts and Doctors on fetal diseases in Rennes, Brittany, France
Locale: Rennes, Brittany, France
Topic: fetal diseases
Dubourg C, Lazaro L, Pasquier L, Bendavid C, Blayau M, Le Duff F, et al
. Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations. Hum Mutat. 2004;24:43-51 pubmed
..This study confirms the great genetic heterogeneity of the disease, the important phenotypic variability in HPE families, and the difficulty to establish genotype-phenotype correlations. ..
Revest M, Minjolle S, Veyer D, Lagathu G, Michelet C, Colimon R. Detection of HHV-6 in over a thousand samples: new types of infection revealed by an analysis of positive results. J Clin Virol. 2011;51:20-4 pubmed publisher
..Clinical manifestations of human herpesvirus-6 (HHV-6) have not been clearly defined, and the role of HHV-6 in human disease remains to be fully elucidated...
Quelin C, Loget P, Rozel C, D Hervé D, Fradin M, Demurger F, et al
. Fetal costello syndrome with neuromuscular spindles excess and p.Gly12Val HRAS mutation. Eur J Med Genet. 2017;60:395-398 pubmed publisher
..Gly12Val mutation and severe CS phenotype and points out the importance of a muscle biopsy performed according to the suitable procedure in neuromuscular disorders for any fetal arthrogryposis. ..