✦ LIBER ✦

WDR35 mutation in siblings with Sensenbrenner syndrome: A ciliopathy with variable phenotype

✍ Scribed by Carlos A. Bacino; Shweta U. Dhar; Nicola Brunetti-Pierri; Brendan Lee; Penelope E. Bonnen

Book ID: 115549426
Publisher: John Wiley and Sons
Year: 2012
Tongue: English
Weight: 710 KB
Volume: 158A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.35608

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel WDR35 mutations in patients with c

Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome)

✍ JL Hoffer; H Fryssira; AE Konstantinidou; H−H Ropers; A Tzschach 📂 Article 📅 2013 🏛 John Wiley and Sons 🌐 English ⚖ 744 KB

Marked phenotypic variability in two sib

Marked phenotypic variability in two siblings with congenital myasthenic syndrome due to mutations inMUSK

✍ Maggi, Lorenzo; Brugnoni, R.; Scaioli, V.; Winden, T. L.; Morandi, L.; Engel, A. 📂 Article 📅 2013 🏛 Springer 🌐 English ⚖ 159 KB

Fryns Syndrome: A Lethal Birth Defect wi

Fryns Syndrome: A Lethal Birth Defect with Variable Phenotypic Expressions in Siblings

✍ Kamaldeep Arora, Anu Thukral, Rashmi Ranjan Das… 📂 Article 📅 2013 🏛 Springer-Verlag 🌐 English ⚖ 155 KB

Ciliopathies with Skeletal Anomalies and

Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

✍ Cecilie Bredrup; Sophie Saunier; Machteld M. Oud; Torunn Fiskerstrand; Alexander 📂 Article 📅 2011 🏛 American Society of Human Genetics 🌐 English ⚖ 822 KB

Currarino syndrome: variable imaging fea

Currarino syndrome: variable imaging features in three siblings with HLXB9 gene mutation

✍ Kim, Ah Yeong; Yoo, So-Young; Kim, Ji Hye; Eo, Hong; Jeon, Tae Yeon 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 582 KB

Gerstmann-Sträussler-Scheinker Syndrome

Gerstmann-Sträussler-Scheinker Syndrome with Variable Phenotype in a New Kindred with PRNP -P102L Mutation

✍ Riudavets, Miguel A.; Sraka, María Alejandra; Schultz, Marcelo; Rojas, Estefanía 📂 Article 📅 2013 🏛 John Wiley and Sons 🌐 English ⚖ 646 KB