✦ LIBER ✦

α6β4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia

✍ Scribed by G.H.S. Ashton; P. Sorelli; J.E. Mellerio; F.M. Keane; R.A.J. Eady; J.A. Mcgrath

Publisher: John Wiley and Sons
Year: 2001
Tongue: English
Weight: 409 KB
Volume: 144
Category: Article
ISSN: 0007-0963
DOI: 10.1046/j.1365-2133.2001.04038.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A case of pyloric atresia associated wit

A case of pyloric atresia associated with junctional epidermolysis bullosa

✍ T. Ishigami; K. Akaishi; S. Nishimura; T. Yokoo 📂 Article 📅 1990 🏛 Springer 🌐 English ⚖ 378 KB

Prenatal diagnosis of pyloric atresia-ju

Prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk

✍ Catherine Lépinard; Philippe Descamps; Guerrino Meneguzzi; Claudine Blanchet-Bar 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 198 KB 👁 1 views

Junctional epidermolysis bullosa with pyloric atresia (PA-JEB) is a highly lethal, inherited, autosomal recessive disease. Thus far, prenatal diagnosis of this syndrome was only realized on pregnancies at risk for recurrence. We report the case of a 26-year-old woman, first cousin to her husband, wh

Prenatal Detection of epidermolysis bull

Prenatal Detection of epidermolysis bullosa letalis with pyloric atresia in a fetus by abnormal ultrasound and elevated alpha-fetoprotein

✍ Dolan, Cynthia R. ;Smith, Lynne T. ;Sybert, Virginia P. 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 782 KB

## Abstract We report on the prenatal diagnosis of epidermolysis bullosa letalis with pyloric atresia in a pregnancy not known to be at risk for this condition. Elevated maternal serum alphafetoprotien levels led to ultrasonography which demonstrated gastric dilatation, consistent with pyloric atre

Prenatal testing in a fetus at risk for

Prenatal testing in a fetus at risk for autosomal dominant polycystic kidney disese and autosomal recessive junctional epidermolysis bullosa with pyloric atresia

✍ Turco, Alberto E. ;Peissel, Bernard ;Rossetti, Sandro ;Selicorni, Angelo ;Manouk 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 623 KB

Deletion of the first pair of fibronecti

Deletion of the first pair of fibronectin type III repeats of the integrin β-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients

✍ Ramon Y. Birnbaum; Daniella Landau; Khalil Elbedour; Rivka Ofir; Ohad S. Birk; R 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 147 KB 👁 1 views

Deletion of the first pair of fibronectin type III repeats of the integrin b-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients.