✦ LIBER ✦

Cutaneous manifestations of Apert syndrome

✍ Scribed by Michael, M. Cohen ;Kreiborg, Sven

Publisher: John Wiley and Sons
Year: 1995
Tongue: English
Weight: 363 KB
Volume: 58
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320580119

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Apparent Apert syndrome with polydactyly

Apparent Apert syndrome with polydactyly: Rare pleiotropic manifestation or new syndrome?

✍ Maroteaux, Pierre ;Fonfria, Marie Christine ;Opitz, John M. ;Reynolds, James F. 📂 Article 📅 1987 🏛 John Wiley and Sons 🌐 English ⚖ 300 KB 👁 2 views

Prenatal diagnosis of Apert syndrome

✍ Chi-Chen Chang; Fuu-Jen Tsai; Horng-Der Tsai; Chang-Hai Tsai; Yao-Yuan Hsieh; Ch 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 208 KB 👁 2 views

Apert syndrome (AS) is clinically characterized by typical facial features and symmetrical syndactyly of the digits. AS is inherited as an autosomal dominant trait. Recently, a fibroblast growth factor receptors 2 (FGFR2) mutation, either C934G or C937G, was identified in exon IIIa. Our report docum

Prenatal sonographic findings of Apert s

Prenatal sonographic findings of Apert syndrome

✍ Carol Chenoweth-Mitchell; Gary R. Cohen 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 498 KB

Cutaneous manifestations of methylmaloni

Cutaneous manifestations of methylmalonic acidemia

✍ R. J. J. Koopman; R. Happle 📂 Article 📅 1990 🏛 Springer-Verlag 🌐 English ⚖ 523 KB

Methylmalonic acidemia is an inborn error of metabolism leading to protein intolerance. This autosomal recessive trait [8] is caused by decreased activity of methylmalonyl-CoA mutase or its coenzyme adenosylcobalamin, a vitamin B~2 metabolite. Seven mutations of this enzyme or its coenzyme have been

Cutaneous manifestations of Lyme borreli

Cutaneous manifestations of Lyme borreliosis

✍ Elisabeth Aberer; Herta Klade 📂 Article 📅 1991 🏛 Springer-Verlag 🌐 English ⚖ 502 KB

Cutaneous Manifestations of Eating Disor

Cutaneous Manifestations of Eating Disorders

✍ Ingrid Tyler; Marni C. Wiseman; Richard I. Crawford; C. Laird Birmingham 📂 Article 📅 2002 🏛 Springer-Verlag 🌐 English ⚖ 178 KB