✦ LIBER ✦

Somatic mosaicism and variable expression of Townes-Brocks syndrome

✍ Scribed by Devriendt, Koen ;Fryns, Jean-Pierre ;Lemmens, Francis ;Kohlhase, J�rgen ;Liebers, Manuela

Publisher: John Wiley and Sons
Year: 2002
Tongue: English
Weight: 100 KB
Volume: 111
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.10485

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Somatic mosaicism for the SALL1 mutation

Somatic mosaicism for the SALL1 mutation p.Ser371X in full-blown Townes–Brocks syndrome with Duane anomaly

✍ Peter C. van den Akker; Raoul van de Graaf; Dennis Dooijes; Anthonie J. van Esse 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 281 KB 👁 2 views

Here we report on a 3-year-old boy with full-blown TBS and two rare features, Duane anomaly (DA) and somatic mosaicism for the causative SALL1 mutation. This boy is the third child of non-consanguineous parents and he was born at 39 þ6 weeks gestation as the second child of a dizygotic twin pregnan

Mosaic trisomy 8 and Townes–Brocks syndr

Mosaic trisomy 8 and Townes–Brocks syndrome due to a novel SALL1 mutation in the same patient

✍ Kerstin N. Walter; K. Lynn Greenhalgh; Ruth A. Newbury-Ecob; Jürgen Kohlhase 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 141 KB 👁 2 views

SALL1 mutations in sporadic Townes–Brock

SALL1 mutations in sporadic Townes–Brocks syndrome are of predominantly paternal origin without obvious paternal age effect

✍ Johann Böhm; Susanne Munk-Schulenburg; Stephanie Felscher; Jürgen Kohlhase 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 94 KB 👁 2 views

Partial expression of Angelman syndrome

Partial expression of Angelman syndrome in mother most likely to be due to mosaicism involving both somatic and germline cells

✍ Hall, Judith G. 📂 Article 📅 1990 🏛 John Wiley and Sons 🌐 English ⚖ 60 KB 👁 1 views

Carpenter syndrome: Marked variability o

Carpenter syndrome: Marked variability of expression to include the summitt and Goodman syndromes

✍ Gershoni-Baruch, Ruth 📂 Article 📅 1990 🏛 John Wiley and Sons 🌐 English ⚖ 463 KB 👁 1 views

Implications for genotype–phenotype pred

Implications for genotype–phenotype predictions in Townes–Brocks syndrome: Case report of a novel SALL1 deletion and review of the literature

✍ Erin M. Miller; Robert Hopkin; Liming Bao; Stephanie M. Ware 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 204 KB 👁 2 views