𝔖 Bobbio Scriptorium
✦   LIBER   ✦

The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)

✍ Scribed by Phelan, K. (author);McDermid, H. E. (author)


Book ID
111871640
Publisher
S. Karger AG
Year
2011
Tongue
English
Weight
668 KB
Volume
2
Category
Article
ISSN
1661-8769

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Deletion 22q13.3 syndrome
✍ Mary C Phelan πŸ“‚ Article πŸ“… 2008 πŸ› BioMed Central 🌐 English βš– 167 KB
Deletion 22q13.3 syndrome
✍ Mary C Phelan πŸ“‚ Article πŸ“… 2008 πŸ› BioMed Central 🌐 English βš– 167 KB

The deletion 22q13.3 syndrome (deletion 22q13 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. The deletion occ

22q13 deletion syndrome
✍ Phelan, Mary C. ;Rogers, R. Curtis ;Saul, Robert A. ;Stapleton, Gail A. ;Sweet, πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 153 KB
Array analysis and molecular studies of
✍ Shyam Sathyamoorthi; Jaime Morales; Jose Bermudez; Lori McBride; Mark Luquette; πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 78 KB πŸ‘ 3 views

Array analysis and molecular studies of INI1 in an infant with deletion 22q13 (Phelan-McDermid syndrome) and atypical teratoid/rhabdoid tumor.