✦ LIBER ✦

Blepharophimosis, corneal vascularization, deafness, and acroosteolysis: A “new” syndrome?

✍ Scribed by Mette Warburg; Susanne Ullman; Hanne Jensen; Hans Pedersen; Takasi Kobayashi; Bjørn Russell; Lisbeth Tranebjaerg; Gabriele Richard; Karen Brøndum-Nielsen

Book ID: 101449313
Publisher: John Wiley and Sons
Year: 2006
Tongue: English
Weight: 161 KB
Volume: 140A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.31543

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Familial Pathologic Myopia, Corneal Dyst

Familial Pathologic Myopia, Corneal Dystrophy, and Deafness: A New Syndrome

✍ Emin Kurt; Abdullah Günen; Yılmaz Sadıkoğlu; Faruk Öztürk; Serdar Tarhan; Refik 📂 Article 📅 2001 🏛 Springer 🌐 English ⚖ 120 KB

A new autosomal dominant craniofacial de

A new autosomal dominant craniofacial deafness syndrome

✍ S. Kassutto; Z. Kassutto; T. Ben-Ami; R. M. Goodman 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 412 KB

Congenital corneal anesthesia with retin

Congenital corneal anesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and mental retardation: A new syndrome?

✍ Ramos-Arroyo, Maria A. ;Clark, G. Gregory ;Saksena, Sudha S. ;Modes, M. E. ;Opit 📂 Article 📅 1987 🏛 John Wiley and Sons 🌐 English ⚖ 624 KB

Histopathology and treatment of corneal

Histopathology and treatment of corneal disease in keratitis, ichthyosis, and deafness (KID) syndrome

✍ Djalilian, A R; Kim, J Y; Saeed, H N; Holland, E J; Chan, C-C 📂 Article 📅 2009 🏛 Nature Publishing Group 🌐 English ⚖ 172 KB

CATARACT, DEAFNESS, CEREBELLAR ATAXIA, P

CATARACT, DEAFNESS, CEREBELLAR ATAXIA, PSYCHOSIS AND DEMENTIA—A NEW SYNDROME

✍ E. Strömgren; A. Dalby; M. A. Dalby; B. Ranheim 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 68 KB

A new syndrome of autosomal recessive ne

A new syndrome of autosomal recessive nephropathy, deafness, and hyperparathyroidism

✍ B. D. Edwards; M. A. Patton; S. A. Dilly; J. B. Eastwood 📂 Article 📅 1993 🏛 Springer 🌐 English ⚖ 103 KB