✦ LIBER ✦

Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco

✍ Scribed by Rahima Mostefai; Fanny Morice-Picard; Franck Boralevi; Michel Sautarel; Didier Lacombe; Marie José Stasia; John McGrath; Alain Taïeb

Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 151 KB
Volume: 146A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.32524

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Clericuzio type poikiloderma with neutro

Clericuzio type poikiloderma with neutropenia is distinct from Rothmund–Thomson syndrome

✍ Johan L.K. Van Hove; Jaak Jaeken; Marijke Proesmans; Kris De Boeck; Kristin Minn 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 319 KB

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

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 novel C16orf57 mutat

Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia

✍ Carol Clericuzio; Karine Harutyunyan; Weidong Jin; Robert P. Erickson; Alan D. I 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 204 KB 👁 2 views

## Abstract Poikiloderma with Neutropenia (PN), Clericuzio‐Type (OMIM #604173) is characterized by poikiloderma, chronic neutropenia, recurrent sinopulmonary infections, bronchiectasis, and nail dystrophy. First described by Clericuzio in 1991 in 14 patients of Navajo descent, it has since also bee

Clinical, pathological, and genetic feat

Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families

✍ Hisaomi Kawai; Masashi Akaike; Makoto Kunishige; Toshio Inui; Katsuhito Adachi; 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 469 KB 👁 2 views

We report on the clinical, pathological, and genetic features of 7 patients with limb-girdle muscular dystrophy type 2A (LGMD2A) from three Japanese families. The mean age of onset was 9.7 ± 3.1 years (mean ± SD), and loss of ambulance occurred at 38.5 ± 2.1 years. Muscle atrophy was predominant in