✦ LIBER ✦

Novel HOXA13 Mutations and the Phenotypic Spectrum of Hand-Foot-Genital Syndrome

✍ Scribed by Frances R. Goodman; Chiara Bacchelli; Angela F. Brady; Louise A. Brueton; Jean-Pierre Fryns; Douglas P. Mortlock; Jeffrey W. Innis; Lewis B. Holmes; Alan E. Donnenfeld; Murray Feingold; Frits A. Beemer; Raoul C.M. Hennekam; Peter J. Scambler

Book ID: 117853332
Publisher: American Society of Human Genetics
Year: 2000
Tongue: English
Weight: 312 KB
Volume: 67
Category: Article
ISSN: 0002-9297
DOI: 10.1086/302961

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutation of HOXA13 in hand-foot-genital

Mutation of HOXA13 in hand-foot-genital syndrome

✍ Mortlock, Douglas P.; Innis, Jeffrey W. 📂 Article 📅 1997 🏛 Nature Publishing Group 🌐 English ⚖ 352 KB

Hallux valgus interphalangeus and a nove

Hallux valgus interphalangeus and a novel mutation in HOXA13. Part of the broadening spectrum of Hand-Foot-Genital syndrome

✍ L. Parker; J. Mangwani; E. Wakeling; D. Singh 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 165 KB

Molecular characterization of HOXA13 pol

Molecular characterization of HOXA13 polyalanine expansion proteins in hand–foot–genital syndrome

✍ Boris Utsch; Colleen D. McCabe; Kenneth Galbraith; Ricardo Gonzalez; Mark Born; 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 270 KB

## Abstract We report on a father and daughter with hand–foot–genital syndrome (HFGS) with typical skeletal and genitourinary anomalies due to a 14‐residue polyalanine expansion in HOXA13. This is the largest (32 residues) polyalanine tract so far described for any polyalanine mutant protein. Polya

A novel mutation of HOXA13 in a family w

A novel mutation of HOXA13 in a family with hand-foot-genital syndrome and the role of polyalanine expansions in the spectrum of Müllerian fusion anomalies

✍ Elisa M. Jorgensen; Jane I. Ruman; Leo Doherty; Hugh S. Taylor 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 182 KB

A novel mutation of HOXA13 in a family w

A novel mutation of HOXA13 in a family with hand-foot-genital syndrome and the role of polyalanine expansions in the spectrum of müllerian fusion anomalies

✍ E.M. Jorgensen; J.I. Ruman; L. Doherty; H.S. Taylor 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 39 KB

Novel KIF7 mutations extend the phenotyp

Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome

✍ Putoux, A.; Nampoothiri, S.; Laurent, N.; Cormier-Daire, V.; Beales, P. L.; Schi 📂 Article 📅 2012 🏛 BMJ Publishing Group 🌐 English ⚖ 288 KB