✦ LIBER ✦

Further delineation of the behavioral and neurologic features in Costello syndrome

✍ Scribed by Kawame, Hiroshi ;Matsui, Mihoko ;Kurosawa, Kenji ;Matsuo, Mari ;Masuno, Mitsuo ;Ohashi, Hirofumi ;Fueki, Noboru ;Aoyama, Kouki ;Miyatsuka, Yukiko ;Suzuki, Kaoru ;Akatsuka, Akira ;Ochiai, Yukikatsu ;Fukushima, Yoshimitsu

Publisher: John Wiley and Sons
Year: 2003
Tongue: English
Weight: 150 KB
Volume: 118A
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.a.10236

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Further delineation of Costello syndrome

✍ Teebi, Ahmad S. ;Shaabani, Issa S. 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 272 KB 👁 2 views

We report on a 6-year-old girl with Costello syndrome. Main manifestations included poor postnatal growth, relative macrocephaly, curly hair, distinct "coarse" face, mild mental retardation, happy and sociable personality, loose dark skin particularly of hands and feet, acanthosis nigricans, thin de

Further delineation of cardiac abnormali

Further delineation of cardiac abnormalities in Costello syndrome

✍ Lin, Angela E. ;Grossfeld, Paul D. ;Hamilton, Robert M. ;Smoot, Leslie ;Gripp, K 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 133 KB 👁 1 views

We review the cardiac abnormalities in 94 patients (27 new, 67 literature) with Costello syndrome, an increasingly recognized syndrome consisting of increased birth weight, postnatal growth retardation, and distinctive facial, skin, and musculoskeletal features (MIM 218040). A cardiac abnormality wa

Delineation of the costello syndrome

✍ Martin, Rick A. ;Jones, Kenneth Lyons 📂 Article 📅 1991 🏛 John Wiley and Sons 🌐 English ⚖ 340 KB 👁 2 views

We present a lbyear-old girl with mental retardation, short stature, coarse face, unusually thick, loose skin of the hands and feet, deep plantar and palmar creases, and nasal papillomata. Her history and physical fmdings are compared to those of 2 children initially reported by Costello and to 1 ch

Behavioral and temperamental features of

Behavioral and temperamental features of children with Costello syndrome

✍ Cédric Galéra; Marie-Ange Delrue; Cyril Goizet; Kattalin Etchegoyhen; Emmanuelle 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 98 KB 👁 1 views

## Abstract Costello syndrome (CS) is a rare genetic condition due to germline mutations in __HRAS__ proto‐oncogene and characterized by increased birth weight, postnatal growth retardation, distinctive facial appearance, typical medical problems (including feeding problems in the neonatal period),

Kleefstra syndrome in three adult patien

Kleefstra syndrome in three adult patients: Further delineation of the behavioral and neurological phenotype shows aspects of a neurodegenerative course

✍ Willem M.A. Verhoeven; Jos I.M. Egger; Karlijn Vermeulen; Bart P.C. van de Warre 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 150 KB 👁 2 views

## Abstract Kleefstra syndrome (KS), previously known as the 9q subtelomeric deletion syndrome (9qSTDS) is caused by haploinsufficiency of the __EHMT1__ gene. Both a single mutation and 9q34 microdeletions encompassing the entire gene can be responsible for this syndrome which is characterized by i

Further delineation of the dup(3q) syndr

Further delineation of the dup(3q) syndrome

✍ Wilson, Golder N. ;Dasouki, Majed ;Barr, Mason ;Opitz, John M. ;Reynolds, James 📂 Article 📅 1985 🏛 John Wiley and Sons 🌐 English ⚖ 499 KB 👁 2 views