Table of contents

Genotype-phenotype correlations

• The UCL low-density lipoprotein receptor gene variant database: pathogenicity update (7 November, 2016)

  Sarah Leigh, Marta Futema, Ros Whittall, Alison Taylor-Beadling, Maggie Williams, Johan T den Dunnen, Steve E Humphries
• Original article: Genotype–phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles (13 October, 2016) Free

  Vito Terlizzi, Giuseppe Castaldo, Donatello Salvatore, Marco Lucarelli, Valeria Raia, Adriano Angioni, Vincenzo Carnovale, Natalia Cirilli, Rosaria Casciaro, Carla Colombo, Antonella Miriam Di Lullo, Ausilia Elce, Paola Iacotucci, Marika Comegna, Manuela Scorza, Vincenzina Lucidi, Anna Perfetti, Roberta Cimino, Serena Quattrucci, Manuela Seia, Valentina Maria Sofia, Federica Zarrilli, Felice Amato
• Short report:

  A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family

  (31 January, 2017)

  Atia Sheereen, Manal Alaamery, Shahad Bawazeer, Yusra Al Yafee, Salam Massadeh, Wafaa Eyaid
• Original article: Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency (22 November, 2016)

  Hao Yang, Walla Al-Hertani, Denis Cyr, Rachel Laframboise, Guy Parizeault, Shu Pei Wang, Francis Rossignol, Marie-Thérèse Berthier, Yves Giguère, Paula J Waters, Grant A Mitchell