✦ LIBER ✦

Mutations of ARX are associated with striking pleiotropy and consistent genotype–phenotype correlation

✍ Scribed by Mitsuhiro Kato; Soma Das; Kristin Petras; Kunio Kitamura; Ken-ichirou Morohashi; Diane N. Abuelo; Mason Barr; Dominique Bonneau; Angela F. Brady; Nancy J. Carpenter; Karen L. Cipero; Francesco Frisone; Takayuki Fukuda; Renzo Guerrini; Eri Iida; Masayuki Itoh; Amy Feldman Lewanda; Yukiko Nanba; Akira Oka; Virginia K. Proud; Pascale Saugier-Veber; Susan L. Schelley; Angelo Selicorni; Rachel Shaner; Margherita Silengo; Fiona Stewart; Noriyuki Sugiyama; Jun Toyama; Annick Toutain; Ana Lía Vargas; Masako Yanazawa; Elaine H. Zackai; William B. Dobyns

Book ID: 102859722
Publisher: John Wiley and Sons
Year: 2004
Tongue: English
Weight: 636 KB
Volume: 23
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.10310

No coin nor oath required. For personal study only.

✦ Synopsis

Communicated by

📜 SIMILAR VOLUMES

Histologic phenotype–genotype correlatio

Histologic phenotype–genotype correlation of corneal dystrophies associated with eight distinct mutations in the TGFBI gene

✍ Paul Dighiero; Florence Niel; Pierre Ellies; François D’Hermies; Michèle Savolde 📂 Article 📅 2001 🏛 Elsevier Science 🌐 English ⚖ 868 KB

LRRK2 and Parkin mutations in a family w

LRRK2 and Parkin mutations in a family with parkinsonism—Lack of genotype–phenotype correlation

✍ Connie Marras; Christine Klein; Anthony E. Lang; Yosuke Wakutani; Danielle Moren 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 73 KB

Spectrum of CHD7 Mutations in 110 Indivi

Spectrum of CHD7 Mutations in 110 Individuals with CHARGE Syndrome and Genotype-Phenotype Correlation

✍ Seema R. Lalani; Arsalan M. Safiullah; Susan D. Fernbach; Karine G. Harutyunyan; 📂 Article 📅 2006 🏛 American Society of Human Genetics 🌐 English ⚖ 538 KB

Genotype–phenotype correlation of a 5q22

Genotype–phenotype correlation of a 5q22.3 deletion associated with craniofacial and limb defects

✍ Seungok Lee; Hyojin Chae; In Yang Park; Myungshin Kim; Yonggoo Kim; Jong Chul Sh 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 500 KB

P19.18: Genotype-phenotype correlation o

P19.18: Genotype-phenotype correlation of a 5q22.3 deletion associated with craniofacial and limb defects

✍ I. Park; J. Shin 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 47 KB

Correlation between Waardenburg syndrome

Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identifiedPAX3mutations

✍ Anita L. DeStefano; L. Adrienne Cupples; Kathleen S. Arnos; J. H. Jr. Asher; Cli 📂 Article 📅 1998 🏛 Springer 🌐 English ⚖ 98 KB