✦ LIBER ✦

A family with hereditary hyperferritinaemia cataract syndrome: evidence of incomplete penetrance and clinical heterogeneity

✍ Scribed by Luz Gonzalez-Huerta; Veronica Ramirez-Sanchez; Maria Rivera-Vega; Olga Messina-Baas; Sergio Cuevas-Covarrubias

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Clinical features and molecular analysis

✍ Lachlan, Katherine L; Karen Temple, I; Mumford, Andrew D 📂 Article 📅 2004 🏛 Nature Publishing Group 🌐 English ⚖ 145 KB

Identification of the mutations associat

✍ FGA Meneses; B Schnabel; IDCG Silva; FL Alberto; L Toma; HB Nader; CC Lopes 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 592 KB

A prospective study of the clinical, gen

✍ P Rozen; Z Samuel; E Brazowski 📂 Article 📅 2003 🏛 Nature Publishing Group 🌐 English ⚖ 552 KB

Proximal myotonic dystrophy—a family wit

✍ Bjarne Udd; Ralf Krahe; Carina Wallgren-Pettersson; Björn Falck; Hannu Kalimo 📂 Article 📅 1997 🏛 Elsevier Science 🌐 English ⚖ 814 KB

Hereditary neuropathy with liability to

✍ R. Del Colle; G. M. Fabrizi; M. Turazzini; T. Cavallaro; M. Silvestri; N. Rizzut 📂 Article 📅 2003 🏛 Springer Milan 🌐 English ⚖ 105 KB

Microduplication 22q11.2: A benign polym

✍ Winnie Courtens; Inge Schramme; Annick Laridon 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 223 KB 👁 3 views