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Clinical and molecular overlap in overgrowth syndromes

✍ Scribed by Geneviève Baujat; Marlène Rio; Sylvie Rossignol; Damien Sanlaville; Stanislas Lyonnet; Martine Le Merrer; Arnold Munnich; Christine Gicquel; Laurence Colleaux; Valérie Cormier-Daire


Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
176 KB
Volume
137C
Category
Article
ISSN
1552-4868

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Clinical and molecular analysis in Joube
✍ Pellegrino, Joan E.; Lensch, M. William; Muenke, Maxmilian; Chance, Phillip F. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 20 KB 👁 2 views

Joubert syndrome is an autosomal recessive disorder comprising cerebellar hypoplasia, hypotonia, developmental delay, abnormal respiratory patterns, and abnormal eye movements. The biochemical basis of the Joubert syndrome is unknown. We ascertained a cohort of 50 patients with the Joubert syndrome