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5q12.1 deletion: Delineation of a phenotype including mental retardation and ocular defects

✍ Scribed by Sylvie Jaillard; Joris Andrieux; Ghislaine Plessis; Ana C.V. Krepischi; Josette Lucas; Véronique David; Marine Le Brun; Debora R. Bertola; Albert David; Marc-Antoine Belaud-Rotureau; Jean Mosser; Leila Lazaro; Catherine Treguier; Carla Rosenberg; Sylvie Odent; Christèle Dubourg


Book ID
102702176
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
530 KB
Volume
155
Category
Article
ISSN
1552-4825

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Young-Simpson syndrome: Further delineat
✍ Masuno, Mitsuo; Imaizumi, Kiyoshi; Okada, Toshihisa; Adachi, Masanori; Nishimura 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 20 KB 👁 2 views

Young-Simpson syndrome is a rare congenital disorder, characterized by congenital hypothyroidism, congenital heart defects, facial dysmorphism, cryptorchidism in males, hypotonia, mental retardation, and postnatal growth retardation. We describe the cases of a 5-year-old boy and a 7-year-old girl wi