Evidence suggesting digenic inheritance of Waardenburg syndrome type II with ocular albinism

Myelomeningocele and Waardenburg syndrom

Myelomeningocele and Waardenburg syndrome (type 3) in patients with interstitial deletions of 2q35 and the PAX3 gene: Possible digenic inheritance of a neural tube defect

✍ Nye, Jeffrey S.; Balkin, Nancy; Lucas, Heather; Knepper, Paul A.; McLone, David 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 47 KB 👁 1 views

From a spina bifida clinic we have identified two patients with a syndrome of myelomeningocele and Waardenburg syndrome type 3 (WS3). The patients each possess a single, de novo, interstitial deletion of chromosome 2 (2q35-36.2), including the PAX3 gene. Deletion of PAX3 was confirmed by fluorescenc