✦ LIBER ✦

Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly

✍ Scribed by Christina A. Gurnett; Anne M. Bowcock; Frederick R. Dietz; Jose A. Morcuende; Jeffrey C. Murray; Matthew B. Dobbs

Book ID: 101449333
Publisher: John Wiley and Sons
Year: 2007
Tongue: English
Weight: 263 KB
Volume: 143A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.31563

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel mutation in the SHH long-range r

A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency

✍ Mohammad M. Al-Qattan; Ibrahim Al Abdulkareem; Yazied Al Haidan; Mohammed Al Bal 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 343 KB

Preaxial polydactyly/triphalangeal thumb

Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS

✍ Farooq, Muhammad; Troelsen, Jesper T; Boyd, Mette; Eiberg, Hans; Hansen, Lars; H 📂 Article 📅 2010 🏛 Nature Publishing Group 🌐 English ⚖ 295 KB

Identification of two novel mutations in

Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly

✍ J Albuisson; B Isidor; M Giraud; O Pichon; T Marsaud; A David; C Le Caignec; S B 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 994 KB

A novel 13 base pair insertion in the so

A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb

✍ Tobias Laurell; Julia E. VanderMeer; Aaron M. Wenger; Giedre Grigelioniene; Agne 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 218 KB

A specific mutation in the distant sonic

A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb

✍ Dagmar Wieczorek; Barbara Pawlik; Yun Li; Nurten A. Akarsu; Almuth Caliebe; Klau 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 392 KB

Werner mesomelic syndrome (WMS) is an autosomal dominant disorder with unknown molecular etiology characterized by hypo-or aplasia of the tibiae in addition to the preaxial polydactyly (PPD) of the hands and feet and/or five-fingered hand with absence of thumbs. We show that point mutations of a spe