𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Matthew-Wood syndrome: Report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2

✍ Scribed by Jelena Martinovic-Bouriel; Céline Bernabé-Dupont; Christelle Golzio; Bettina Grattagliano-Bessières; Valérie Malan; Maryse Bonnière; Chantal Esculpavit; Catherine Fallet-Bianco; Véronique Mirlesse; Jerôme Le Bidois; Marie-Cécile Aubry; Michel Vekemans; Nicole Morichon; Heather Etchevers; Tania Attié-Bitach; Féréchté Encha-Razavi; Alexandra Benachi


Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
471 KB
Volume
143A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


New autosomal recessive syndrome of prog
✍ De Vitto, L. P. M.; Costa, O. A.; Bevilaqua, M. C.; Passerotti, S.; Richieri-Cos 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 718 KB

We report on two sisters with cataracts and progressive sensorineural hearing loss, starting in infancy. They were born to consanguineous parents, and there were no similar cases in the family. To our knowledge this is the first report on this autosomal recessive condition. Clinical and genetic aspe