A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the gene

• मुख्य लेखकों: Min Young Lee (लेखक), Ga Won Jeon (लेखक), Ji Mi Jung (लेखक), Jong Beom Sin (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Korean Pediatric Society, 2010-07-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Pfeiffer syndrome is a rare autosomal dominant disorder characterized by coronal craniosynostosis, brachycephaly, mid-facial hypoplasia, and broad and deviated thumbs and great toes. Pfeiffer syndrome occurs in approximately 1:100,000 live births. Clinical manifestations and molecular genetic testin...