✦ LIBER ✦

Two patients with Rubinstein–Taybi syndrome and severe pulmonary interstitial involvement

✍ Scribed by Rika Kosaki; Shintaro Kikuchi; Goro Koinuma; Masataka Higuchi; Chiharu Torii; Kazuteru Kawasaki; Kenjiro Kosaki

Book ID: 101447801
Publisher: John Wiley and Sons
Year: 2010
Tongue: English
Weight: 74 KB
Volume: 152A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.33382

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Two patients with EP300 mutations and fa

Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein–Taybi syndrome

✍ Oliver Bartsch; Janette Labonté; Beate Albrecht; Dagmar Wieczorek; Stanislav Lec 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 133 KB 👁 3 views

Submicroscopic deletion of chromosome 16

Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome

✍ Taine, Laurence; Goizet, Cyril; Wen, Zong Qi; Petrij, Fred; Breuning, Martijn H. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 20 KB 👁 2 views

The Rubinstein-Taybi syndrome (RTS) is a well-defined entity characterized by growth and mental retardation, broad thumbs and halluces, and typical face. The RTS locus was assigned to 16p13.3, and interstitial submicroscopic deletions of this region (RT1 cosmid, D16S237) were initially identified in

DNA sequencing ofCREBBPdemonstrates muta

DNA sequencing ofCREBBPdemonstrates mutations in 56% of patients with Rubinstein–Taybi syndrome (RSTS) and in another patient with incomplete RSTS

✍ Oliver Bartsch; Stefanie Schmidt; Marion Richter; Susanne Morlot; Eva Seemanová; 📂 Article 📅 2005 🏛 Springer 🌐 English ⚖ 386 KB

FISH studies in 45 patients with Rubinst

FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy

✍ Bartsch, Oliver; Wagner, Annett; Hinkel, Georg K; Krebs, Petra; Stumm, Markus; S 📂 Article 📅 1999 🏛 Nature Publishing Group 🌐 English ⚖ 526 KB

Two adults with Rubinstein–Taybi syndrom

Two adults with Rubinstein–Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers

✍ Dagmar Wieczorek; Oliver Bartsch; Stanislav Lechno; Jürgen Kohlhase; Dorien J.M. 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 213 KB

Exon deletions of the EP300 and CREBBP g

Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein–Taybi syndrome detected by aCGH

✍ Tsai, Anne Chun-Hui; J Dossett, Cherilyn; Walton, Carol S; E Cramer, Andrea; Eng 📂 Article 📅 2010 🏛 Nature Publishing Group 🌐 English ⚖ 590 KB