✦ LIBER ✦

The Rubinstein-Taybi syndrome: Occurrence in two sets of identical twins

✍ Scribed by M. Baraitser; M. A. Preece

Book ID: 119839483
Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 248 KB
Volume: 23
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.1983.tb01884.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Surgical treatment of the thumb in the r

Surgical treatment of the thumb in the rubinstein-taybi syndrome

✍ WOOD, V; RUBINSTEIN, J 📂 Article 📅 1987 🏛 Elsevier Science 🌐 English ⚖ 919 KB

Long-term results following osteotomy of

Long-term results following osteotomy of the thumb delta phalanx in Rubinstein-Taybi Syndrome

✍ Jain, A.; Rehman, S.; Smith, G. 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 249 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

The association of neural axis and crani

The association of neural axis and craniovertebral junction anomalies with scoliosis in Rubinstein–Taybi syndrome

✍ Giussani, Carlo; Selicorni, Angelo; Fossati, Chiara; Ingelmo, Pablo; Canonico, F 📂 Article 📅 2012 🏛 Springer 🌐 English ⚖ 342 KB

Genotype-phenotype correlation in two se

Genotype-phenotype correlation in two sets of monozygotic twins with Williams syndrome

✍ Castorina, Pierangela; Selicorni, Angelo; Bedeschi, Francesca; Dalprà, Leda; Lar 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 263 KB 👁 3 views

We report on two sets of monozygotic (MZ) twins with Williams syndrome (WS), following the 6 pairs already reported in the literature. We have confirmed monozygosity of both pairs of twins by DNA microsatellite analysis and the clinical diagnosis by fluorescence in situ hybridization using a WSspeci

Rubinstein–Taybi syndrome and Hirschspru

Rubinstein–Taybi syndrome and Hirschsprung disease in a patient harboring an intragenic deletion of the CREBBP gene

✍ B. Isidor; G. Podevin; C. Camby; J.-F. Mosnier; A. Chauty; J.-M. Lyet; P. Fergel 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 59 KB 👁 2 views