𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Piebaldism-Waardenburg syndrome: Histopathologic evidence for a neural crest syndrome

✍ Scribed by Kaplan, Paige ;De Chaderévian, Jean-Pierre ;Opitz, John M. ;Reynolds, James F.

Publisher
John Wiley and Sons
Year
1988
Tongue
English
Weight
764 KB
Volume
31
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Piebaldism with deafness: Molecular evid
Piebaldism with deafness: Molecular evidence for an expanded syndrome
✍ Spritz, Richard A.; Beighton, Peter 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 4 KB 👁 2 views

In a South African girl of Xhosa stock with severe piebaldism and profound congenital sensorineural deafness we identified a novel missense substitution at a highly conserved residue in the intracellular kinase domain of the KIT proto-oncogene, R796G. Though auditory anomalies have been observed in

Neural tube defects and the 13q deletion
Neural tube defects and the 13q deletion syndrome: Evidence for a critical region in 13q33-34
✍ Luo, Jeffrey; Balkin, Nancy; Stewart, Julie F.; Sarwark, John F.; Charrow, Joel; 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 41 KB 👁 3 views

Neural tube defects (NTD) are common findings in the 13q deletion syndrome, but the relationship between the 13q-syndrome and NTDs is poorly understood. We present a child with a 13q deletion and lumbosacral myelomeningocele. This was a boy with microcephaly, telecanthus, minor facial anomalies, and