✦ LIBER ✦

Vertical transmission of the neurofibromatosis/Noonan syndrome

✍ Scribed by Quattrin, Teresa ;McPherson, Elspeth ;Putnam, Theodore ;Opitz, John M. ;Reynolds, James F.

Publisher: John Wiley and Sons
Year: 1987
Tongue: English
Weight: 425 KB
Volume: 26
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320260320

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

The neurofibromatosis-Noonan syndrome

✍ Mendez, Heirie M. M. ;Opitz, John M. ;Reynolds, James F. 📂 Article 📅 1985 🏛 John Wiley and Sons 🌐 English ⚖ 359 KB 👁 1 views

## Abstract We report on two patients with clinical evidence of Noonan syndrome and neurofibromatosis. Four hypotheses to explain the simultaneous occurrence of both conditions are discussed.

Vertical transmission of the Ohdo blepha

Vertical transmission of the Ohdo blepharophimosis syndrome

✍ Mhanni, Aizeddin A.; Dawson, Angelika J.; Chudley, Albert E. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 33 KB 👁 2 views

Ohdo blepharophimosis syndrome (OBS) is a multiple congenital anomalies-mental retardation syndrome composed of blepharophimosis, ptosis, dental hypoplasia, partial deafness, and mental retardation. Previously reported cases of OBS have been sporadic except for the report by Ohdo et al. [1986, J Med

Evidence that the “neurofibromatosis-Noo

Evidence that the “neurofibromatosis-Noonan syndrome” is a variant of von Recklinghausen neurofibromatosis

✍ Meinecke, Peter ;Opitz, John M. ;Reynolds, James F. 📂 Article 📅 1987 🏛 John Wiley and Sons 🌐 English ⚖ 358 KB 👁 1 views

Lateral meningocele syndrome: Vertical t

Lateral meningocele syndrome: Vertical transmission and expansion of the phenotype

✍ Kelly M. Chen; Lynne Bird; Pat Barnes; Richard Barth; Louanne Hudgins 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 336 KB 👁 2 views

Noonan syndrome in a patient with hyperp

Noonan syndrome in a patient with hyperplasia of the myenteric plexuses and neurofibromatosis

✍ Saul, Robert A. ;Opitz, John M. ;Reynolds, James F. 📂 Article 📅 1985 🏛 John Wiley and Sons 🌐 English ⚖ 61 KB 👁 1 views

Neurofibromatosis–Noonan syndrome: Molec

Neurofibromatosis–Noonan syndrome: Molecular evidence of the concurrence of both disorders in a patient

✍ Debora R. Bertola; Alexandre C. Pereira; Fábio Passetti; Paulo S.L. de Oliveira; 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 159 KB 👁 1 views

Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial anomalies, webbed neck, sternal deformity, heart defects, and, in males, cryptorchidism. PTPN11 encodes SHP2, an important component of several signal transduction pathways that acts as a positive regulator