✦ LIBER ✦

Mental retardation, Robin sequence, and brachydactyly: Further confirmation of a new syndrome

✍ Scribed by Gurrieri, Fiorella ;Scarano, Gioacchino ;Garavelli, Livia ;Monica, Matteo Della ;Lonardo, Fortunato ;Cuda, Domenico ;Banchini, Giacomo ;Opitz, John M. ;Neri, Giovanni

Publisher: John Wiley and Sons
Year: 2004
Tongue: English
Weight: 163 KB
Volume: 126A
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.a.20575

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

New syndrome of mental retardation, Robi

New syndrome of mental retardation, Robin sequence, and brachydactyly

✍ Gurrieri, Fiorella ;Steindl, Katharina ;Giglio, Sabrina ;Neri, Giovanni 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 151 KB 👁 2 views

Short stature, brachydactyly, nail dyspl

Short stature, brachydactyly, nail dysplasia, and mental retardation: Further observation of the Tonoki syndrome

✍ Sorge, Giovanni; Baieli, Sabrina; Mauceri, Laura; Greco, Filippo; Fiumara, Agata 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 17 KB 👁 2 views

propositus has brachydactyly of thumbs and a similar physiognomy without mental retardation. This appears to be another observation of the Tonoki syndrome, a distinct autosomal dominant or X-linked clinical entity.

A new X-linked mental retardation syndro

A new X-linked mental retardation syndrome

✍ Clark, Robin Dawn ;Baraitser, Michael ;Reynolds, James F. 📂 Article 📅 1987 🏛 John Wiley and Sons 🌐 English ⚖ 179 KB 👁 2 views

New syndrome of trichodermal defect and

New syndrome of trichodermal defect and mental retardation

✍ Katsantoni, A. ;Papadakou-Lagoyanni, S. ;Micheloyannis, J. ;Côté, G. B. ;Fraser, 📂 Article 📅 1984 🏛 John Wiley and Sons 🌐 English ⚖ 165 KB 👁 2 views

X-linked syndrome of mental retardation,

X-linked syndrome of mental retardation, short stature, and hypertelorism: A new syndrome or a further example of the FG syndrome?

✍ Bottani, Armand 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 68 KB 👁 2 views

A new autosomal recessive syndrome chara

A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalities

✍ Ronen Spiegel; Yoseph Horovitz; Hartmut Peters; Fikret Erdogan; Ilana Chervinsky 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 170 KB 👁 2 views