✦ LIBER ✦

Colobomatous macrophthalmia with microcornea syndrome maps to the 2p23-p16 region

✍ Scribed by Nursel H. Elcioglu; Burcu Akin; Ebru Toker; Mustafa Elcioglu; Ali Kaya; Timur Tuncali; Bernd Wollnik; Stella Hornby; Nurten A. Akarsu

Publisher: John Wiley and Sons
Year: 2007
Tongue: English
Weight: 165 KB
Volume: 143A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.31766

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Confirmation of the colobomatous macroph

Confirmation of the colobomatous macrophthalmia with microcornea syndrome: Report of another family

✍ Pallotta, Rosanna; Fusilli, Paola; Sabatino, Giuseppe; Verrotti, Alberto; Chiare 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 9 KB 👁 2 views

We report on the occurence of microcornea, coloboma, and macrophthalmia in 4 generations of an Italian family. The patients had no additional physical anomalies, were of normal intelligence, and had a normal karyotype. This condition has been reported in only 1 family [Bateman and

Mapping of a minimal deleted region in h

Mapping of a minimal deleted region in human hepatocellular carcinoma to 1p36.13–p36.23 and mutational analysis of the RIZ (PRDM2) gene localized to the region

✍ Wei Fang; Zhe Piao; Daniela Simon; Jin-Chuan Sheu; Shi Huang 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 157 KB 👁 2 views

Autosomal recessive Rolandic epilepsy wi

Autosomal recessive Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: Delineation of the syndrome and gene mapping to chromosome 16p12-11.2

✍ Renzo Guerrini; Paolo Bonanni; Nardo Nardocci; Lucio Parmeggiani; Massimo Piccir 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 245 KB 👁 1 views