𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Phenotypic and molecular characterization of a novel case of dyssegmental dysplasia, Silverman-Handmaker type

✍ Scribed by Claudine Rieubland; Sebastien Jacquemont; Laureane Mittaz; Maria-Chiara Osterheld; Yvan Vial; Andrea Superti-Furga; Sheila Unger; Luisa Bonafé

Book ID
116433277
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
494 KB
Volume
53
Category
Article
ISSN
1769-7212

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Dyssegmental dysplasia, Silverman-Handma
Dyssegmental dysplasia, Silverman-Handmaker type: Unexpected role of perlecan in cartilage development
✍ Arikawa-Hirasawa, Eri ;Wilcox, William R. ;Yamada, Yoshihiko 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 84 KB 👁 1 views

## Abstract Dyssegmental dysplasia, Silverman‐Handmaker type (DDSH), is a lethal autosomal recessive form of dwarfism with characteristic anisospondylic micromelia. The remarkable similarities in the radiographic, clinical, and chondroosseous morphology of DDSH patients to those of perlecan‐null mi

Dyssegmental dysplasia Silverman-Handmak
Dyssegmental dysplasia Silverman-Handmaker type in a consanguineous Druze Lebanese family: Long term survival and documentation of the natural history
✍ Prabhu, Vishwanath G.; Kozma, Chahira; Leftridge, Clifton A.; Helmbrecht, Gary D 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 53 KB 👁 1 views

We report on a male infant born with clinical and radiographic evidence of a lethal form of dyssegmental dysplasia not comparable to Silverman-Handmaker type, who had a prolonged survival of more than eight months. He had ocular and central nervous system abnormalities which have not been previously