𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Phenotypic variability in Bartter syndrome type I

✍ Scribed by A. Bettinelli; Sonia Ciarmatori; Layla Cesareo; Silvana Tedeschi; Giuseppe Ruffa; Aldo Claris Appiani; Augusto Rosini; Gianpaolo Grumieri; Bruno Mercuri; Michele Sacco; Giovanna Leozappa; Silvana Binda; Milvia Cecconi; Carla Navone; Cristina Curcio; Marie Louise Syren; Giorgio Casari


Publisher
Springer
Year
2000
Tongue
English
Weight
200 KB
Volume
14
Category
Article
ISSN
0931-041X

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


HLA typing in Bartter syndrome
✍ Delaney, Vera ;Watson, A. J. ;Pollack, Marilyn ;Dupont, Bo ;Bourke, E. 📂 Article 📅 1984 🏛 John Wiley and Sons 🌐 English ⚖ 212 KB
Phenotypic variability in Townes-Brocks
✍ de Pina-Neto, João Monteiro ;Opitz, John M. 📂 Article 📅 1984 🏛 John Wiley and Sons 🌐 English ⚖ 277 KB 👁 2 views

## Abstract This is a report on a child with sensorineural deafness, imperforate anus with rectovaginal fistula, hypoplastic thumb, and congenital heart defect. This pattern of congenital anomalies is similar to that described in patients with the Townes‐Brocks syndrome, although the present patien

Significant phenotypic variability of Mu
✍ Luis F. Escobar; Adam K. Hiett; Anne Marnocha 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 116 KB 👁 1 views

## Abstract Muenke syndrome (MS), also known as Muenke nonsyndromic coronal craniosynostosis, is an autosomal dominant condition which can be distinguished from the more common forms of acrocephalosyndactyly but presents a significant variable phenotype. We report on a set of identical twins with a

Phenotypic variability of a distinct del
✍ Marcelo Miranda; Claudia Castiglioni; Beat M. Frey; Martin Hergersberg; Adrian D 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 111 KB

## Abstract The X‐linked McLeod neuroacanthocytosis syndrome strongly resembles Huntington's disease and has been reported in various countries world‐wide. Herein, we report two Chilean brothers with predominant psychiatric features at disease onset including schizophrenia‐like psychosis and obsess