𝔖 Bobbio Scriptorium
✦   LIBER   ✦

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

✍ Scribed by JL Hoffer; H Fryssira; AE Konstantinidou; H−H Ropers; A Tzschach

Book ID
119981557
Publisher
John Wiley and Sons
Year
2013
Tongue
English
Weight
744 KB
Volume
83
Category
Article
ISSN
0009-9163

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel ANKH mutation in a patient with sp
Novel ANKH mutation in a patient with sporadic craniometaphyseal dysplasia
✍ Allison Zajac; Seung-Hak Baek; Imad Salhab; Melissa A. Radecki; Sukwha Kim; Hako 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 311 KB 👁 2 views

## Abstract Craniometaphyseal dysplasia is caused by mutations in __ANKH__ (ankylosis, progressive homolog [mouse]) in the majority of cases, and all of the reported mutations are single amino acid changes. Genomic DNA from an affected patient, his biological parents, and a sibling was amplified an

Identification of novel mutations in pat
Identification of novel mutations in patients with Shwachman-Diamond syndrome
✍ Elena Nicolis; Alberto Bonizzato; Baroukh M. Assael; Marco Cipolli 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 87 KB 👁 2 views

## Communicated by Mireille Claustres Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disease, mainly characterized by exocrine pancreatic insufficiency, hematological dysfunction and skeletal abnormalities. The SDS disease locus was mapped to chromosome 7q11 and disease-associated m

Six novel mutations of the RUNX2 gene in
Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasia
✍ Alessandra Tessa; Sergio Salvi; Carlo Casali; Livia Garavelli; M. Cristina Digil 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 207 KB 👁 1 views

We report clinical and molecular findings in 14 patients with cleidocranial dysplasia (CCD), a well defined skeletal disorder with characteristic clinical findings and autosomal dominant inheritance. We identified ten heterozygous base changes in the RUNX2 gene, including six novel mutations [c.522i