Practical Genetics

Advanced parental age in maternal uniparental disomy (UPD): implications for the mechanism of formation

• Dieter Kotzot

Practical genetics: alpha-1-antitrypsin deficiency and the serpinopathies

• Damian C Crowther
• Didier Belorgey
• David A Lomas

Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400)

• Ravi Savarirayan
• Elizabeth Thompson
• Jozef Gécz

Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032)

• Laurent Villard
• Michel Fontes

Emery-Dreifuss muscular dystrophy

• Anne Helbling-Leclerc
• Gisèle Bonne
• Ketty Schwartz

Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for α2 chain of laminin)

• Valérie Allamand
• Pascale Guicheney

X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known under various names: pp90^rsk2, RSK2, ISPK, MAPKAP1)

• Sylvie Jacquot
• Maria Zeniou
• André Hanauer