✦ LIBER ✦

Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene

✍ Scribed by Ludovica Volpi; Gaia Roversi; Elisa Adele Colombo; Nico Leijsten; Daniela Concolino; Andrea Calabria; Maria Antonietta Mencarelli; Michele Fimiani; Fabio Macciardi; Rolph Pfundt; Eric F.P.M. Schoenmakers; Lidia Larizza

Book ID: 113422910
Publisher: American Society of Human Genetics
Year: 2010
Tongue: English
Weight: 24 KB
Volume: 87
Category: Article
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2010.08.012

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Targeted Next-Generation Sequencing Appo

Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene

✍ Ludovica Volpi; Gaia Roversi; Elisa Adele Colombo; Nico Leijsten; Daniela Concol 📂 Article 📅 2010 🏛 American Society of Human Genetics 🌐 English ⚖ 993 KB

Clericuzio-type poikiloderma with neutro

Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: Delineation of the phenotype

✍ D. Concolino; G. Roversi; G.L. Muzzi; S. Sestito; E.A. Colombo; L. Volpi; L. Lar 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 259 KB 👁 1 views

Identification of a homozygous deletion

Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia

✍ Akio Tanaka; Fanny Morice-Picard; Didier Lacombe; Nikoletta Nagy; Michihiro Hide 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 109 KB 👁 2 views