Touraine, R L, Attié-Bitach, T, Manceau, E, Korsch, E, Sarda, P, Pingault, V, ...
Waardenburg syndrome type 4 (WS4), also called Shah-Waardenburg syndrome, is a rare neurocristopathy that results from the absence of melanocytes and intrinsic ganglion cells of the terminal hindgut....
Mutations within the MGC4607 Gene Cause Cerebral Cavernous Malformations
Denier, C., Goutagny, S., Labauge, P., Krivosic, V., Arnoult, M, Cousin, A., ...
Cerebral cavernous malformations (CCM) are hamartomatous vascular malformations characterized by abnormally enlarged capillary cavities without intervening brain parenchyma. They cause seizures and...
Touraine, R L, Attié-Bitach, T, Manceau, E, Korsch, E, Sarda, P, Pingault, V, ...
Waardenburg syndrome type 4 (WS4), also called Shah-Waardenburg syndrome, is a rare neurocristopathy that results from the absence of melanocytes and intrinsic ganglion cells of the terminal hindgut....
Richard, I, Brenguier, L, Dinçer, P, Roudaut, C, Bady, B, Burgunder, J M, ...
Limb-girdle muscular dystrophies (LGMDs) are a group of neuromuscular diseases presenting great clinical heterogeneity. Mutations in CANP3, the gene encoding muscle-specific calpain, were used to...
Dahl, N., Hu, L. J., Chery, M., Fardeau, M., Gilgenkrantz, S., Nivelon-Chevallier, A., ...
A young girl with a clinically moderate form of myotubular myopathy was found to carry a cytogenetically detectable deletion in Xq27-q28. The deletion had occurred de novo on the paternal X...
Absence of distal interphalangeal fold causing difficulty in extending fingers.
Lambert, D, Nivelon-Chevallier, A, Chapuis, J L
A 13-year-old girl sought medical advice, saying that for two years it had been increasingly difficult for her to extend her little finger. An examination revealed that all her fingers, with the...