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Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation

✍ Scribed by Giovanni Coppola; Chiara Criscuolo; Giuseppe De Michele; Salvatore Striano; Fabrizio Barbieri; Pasquale Striano; Anna Perretti; Lucio Santoro; Vincenzo Brescia Morra; Francesco Saccà; Valentina Scarano; Adamo P. D’Adamo; Sandro Banfi; Paolo Gasparini; Filippo M. Santorelli; Anna E. Lehesjoki; Alessandro Filla


Publisher
Springer
Year
2005
Tongue
English
Weight
283 KB
Volume
252
Category
Article
ISSN
0340-5354

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An autosomal recessive mental retardatio
✍ Thompson, Elizabeth ;Baraitser, Michael ;Opitz, John M. ;Reynolds, James F. 📂 Article 📅 1986 🏛 John Wiley and Sons 🌐 English ⚖ 583 KB

Two sisters had developmental retardation and congenital hepatic fibrosis. One, 23 years old, had facial anomalies reminiscent of Smith-Lemli-Opitz syndrome, ocular coloboma, and hypoplastic kidneys with a single cyst. The other sister died at 18 months and had an encephalocele and cystically dilate