✦ LIBER ✦

Three members of a family with pili torti and sensorineural hearing loss: The Bjornstad syndrome

✍ Scribed by Kristen A. Richards; Anthony J. Mancini

Book ID: 117845207
Publisher: Elsevier Science
Year: 2002
Tongue: English
Weight: 79 KB
Volume: 46
Category: Article
ISSN: 1097-6787
DOI: 10.1067/mjd.2002.107969

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

The Bjornstad Syndrome (Sensorineural He

The Bjornstad Syndrome (Sensorineural Hearing Loss and Pili Torti) Disease Gene Maps to Chromosome 2q34-36

✍ José Faibes Lubianca Neto; Leonard Lu; Roland D. Eavey; Marco Antonio Macias Flo 📂 Article 📅 1998 🏛 American Society of Human Genetics 🌐 English ⚖ 798 KB

Pili torti with congenital deafness (Bjo

Pili torti with congenital deafness (Bjornstad's syndrome)— report of three cases in one family, suggesting autosomal dominant transmission

✍ A. PETIT; M.M. DONTENWILLE; C. BLANCHET BARDON; J. CIVATTE 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 901 KB

The presence of a widened vestibular aqu

The presence of a widened vestibular aqueduct and progressive sensorineural hearing loss in the Branchio-Oto-Renal syndrome. A family study

✍ Chr. Stinckens; L. Standaert; J.W. Casselman; P.L.M Huygen; S. Kumar; J. Van de 📂 Article 📅 2001 🏛 Elsevier Science 🌐 English ⚖ 202 KB

Van der Woude syndrome with sensorineura

Van der Woude syndrome with sensorineural hearing loss, large craniofacial sinuses, dental pulp stones, and minor limb anomalies: Report of a four-generation Thai family

✍ Kantaputra, Piranit N. ;Sumitsawan, Yupa ;Schutte, Brian C. ;Tochareontanaphol, 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 254 KB 👁 2 views

## Abstract A four‐generation Thai family affected with Van der Woude syndrome is reported. The disorder appeared to be originally inherited from a person who was half Thai and half Pakistani. The lip lesions found in this family were varied and did not appear to be related to other phenotypes. The

A novel gene for Usher syndrome type 2:

A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss

✍ Inga Ebermann; Hendrik P. N. Scholl; Peter Charbel Issa; Elvir Becirovic; Jürgen 📂 Article 📅 2006 🏛 Springer 🌐 English ⚖ 518 KB

Mutation in the X-linkedRAB40ALgene (Mar

Mutation in the X-linkedRAB40ALgene (Martin-Probst syndrome) with mental retardation, sensorineural hearing loss, and anomalies of the craniofacies and genitourinary tract: a second case report

✍ Lee, James; Wong, Stacey; Boles, Richard G. 📂 Article 📅 2014 🏛 Springer 🌐 English ⚖ 190 KB