✦ LIBER ✦

Deletion 22q13.3 syndrome

✍ Scribed by Mary C Phelan

Book ID: 119911338
Publisher: BioMed Central
Year: 2008
Tongue: English
Weight: 167 KB
Volume: 3
Category: Article
ISSN: 1750-1172
DOI: 10.1186/1750-1172-3-14

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

✍ Mary C Phelan 📂 Article 📅 2008 🏛 BioMed Central 🌐 English ⚖ 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, 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 153 KB

The 22q13.3 Deletion Syndrome (Phelan-Mc

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

✍ Phelan, K. (author);McDermid, H. E. (author) 📂 Article 📅 2011 🏛 S. Karger AG 🌐 English ⚖ 668 KB

The 22q13.3 Deletion Syndrome (Phelan-Mc

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

✍ Phelan, K. (author);McDermid, H. E. (author) 📂 Article 📅 2011 🏛 S. Karger AG 🌐 English ⚖ 668 KB

Chromosome 22q13.3 deletion syndrome wit

Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3

✍ A. Delahaye; A. Toutain; A. Aboura; C. Dupont; A.C. Tabet; B. Benzacken; J. Elio 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 374 KB

Clinical utility gene card for: Deletion

Clinical utility gene card for: Deletion 22q13 syndrome

✍ Phelan, Katy; Betancur, Catalina 📂 Article 📅 2010 🏛 Nature Publishing Group 🌐 English ⚖ 110 KB