✦ LIBER ✦

Feingold syndrome associated with two novel MYCN mutations in sporadic and familial cases including monozygotic twins

✍ Scribed by Bettina Blaumeiser; Barbara Oehl-Jaschkowitz; Wiktor Borozdin; Jürgen Kohlhase

Book ID: 101448271
Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 135 KB
Volume: 146A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.32444

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel PTCH1 mutations in Japanese Nevoid

Novel PTCH1 mutations in Japanese Nevoid basal cell carcinoma syndrome patients: two familial and three sporadic cases including the first Japanese patient with medulloblastoma

✍ Fujii, Midori; Noguchi, Kazuma; Urade, Masahiro; Muraki, Yukoh; Moridera, Kuniya 📂 Article 📅 2011 🏛 Nature Publishing Group 🌐 English ⚖ 531 KB

Identification of novel missense mutatio

Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of Familial Exudative Vitreoretinopathy

✍ Barkur S. Shastry; James F. Hejtmancik; Michael T. Trese 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 173 KB 👁 2 views

X-linked Familial Exudative Vitreoretinopathy (XLFEVR) is a hereditary eye disorder that affects both the retina and the vitreous body. It is characterized by an abnormal vascularization of the peripheral retina. It has been previously shown by linkage and candidate gene analysis that XLFEVR and Nor

Novel and known nephrin gene (NPHS1) mut

Novel and known nephrin gene (NPHS1) mutations in two Greek cases with congenital nephrotic syndrome including a complex genotype

✍ FYLAKTOU, IRENE; MEGREMIS, SPYRIDON; MITSIONI, ANDROMACHI; KITSIOU-TZELI, SOFIA; 📂 Article 📅 2013 🏛 Indian Academy of Sciences 🌐 English ⚖ 755 KB

Two novel RAD21 mutations in patients wi

Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case

✍ Minor, Agata; Shinawi, Marwan; Hogue, Jacob S.; Vineyard, Marisa; Hamlin, Damara 📂 Article 📅 2014 🏛 Elsevier Science 🌐 English ⚖ 629 KB