𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Robinow syndrome: Phenotypic variability in a family with a novel intragenic ROR2 mutation

✍ Scribed by Nicola Brunetti-Pierri; Daniela del Gaudio; Hartmut Peters; Henri Justino; Claus-Eric Ott; Stefan Mundlos; Carlos A. Bacino


Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
365 KB
Volume
146A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Clinical variability in a Noonan syndrom
✍ Bertola, DοΏ½bora Romeo ;Pereira, Alexandre C. ;Oliveira, Paulo S.L. de ;Kim, Chon πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 184 KB πŸ‘ 2 views

## Abstract Noonan syndrome (NS) is an autosomal dominant disorder comprising short stature, facial dysmorphism, short and/or webbed neck, heart defects, and cryptorchidism in males. The gene responsible for the disorder (__PTPN11__) was recently identified, and explains 30–50% of the cases clinica

A novel homeobox mutation in the PITX2 g
✍ Faisal Idrees; Agnes Bloch-Zupan; Samantha L. Free; Daniela Vaideanu; Pamela J. πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 252 KB πŸ‘ 2 views

## Abstract Axenfeld‐Rieger Syndrome (ARS) is a genetically heterogeneous birth defect characterized by malformation of the anterior segment of the eye associated with glaucoma. Mutation of the __PITX2__ homeobox gene has been identified as a cause of ARS. We report a novel Arg5Trp missense mutatio

Treacher Collins syndrome: Phenotypic va
✍ Hansen, Matthew; Lucarelli, Mark J.; Whiteman, David A. H.; Mulliken, John B. πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 21 KB πŸ‘ 2 views

## We report extreme expression of Treacher Collins syndrome in an infant with arhinia, anotia, absent zygomatic bones, hypoplastic mandibular rami, and bilateral coloboma of iris, choroid plexus, and optic nerves. The Treacher Collins phenotype was mildly expressed in the mother and moderately in