Mardini–Nyhan association (lung agenesis, congenital heart, and thumb anomalies): Three new cases and possible recurrence in a sib—Is there a distinct recessive syndrome?

✍ Scribed by Rob Hastings; David Harding; Alan Donaldson; Rachel Liebling; Alison Hayes; Alison Kraus; Shelagh Joss; Shuba Narayanaswamy; Peter Turnpenny; Sarah Smithson

• Publisher: John Wiley and Sons
• Year: 2009
• Tongue: English
• Weight: 122 KB
• Volume: 149A
• Category: Article
• ISSN: 1552-4825
• DOI: 10.1002/ajmg.a.33124