✦ LIBER ✦

Acanthosis Nigricans and Hypochondroplasia in a Child with a K650Q Mutation in FGFR3

✍ Scribed by DAVID R. BERK; MARIA DEL CARMEN BOENTE; DANIELA MONTANARI; MARIA GUADALUPE TOLOZA; NORMA BETRIZ PRIMC; MARIA INES PRADO; SUSAN J. BAYLISS; LYNN M. PIQUE; IRIS SCHRIJVER

Book ID: 109091209
Publisher: John Wiley and Sons
Year: 2010
Tongue: English
Weight: 248 KB
Volume: 27
Category: Article
ISSN: 0736-8046
DOI: 10.1111/j.1525-1470.2010.01331.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Acanthosis nigricans in a child with mil

Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene

✍ Jules G. Leroy; Lieve Nuytinck; Jo Lambert; Jean-Marie Naeyaert; Geert R. Mortie 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 288 KB 👁 2 views

Fibroblast growth factor receptor 3 (FGF

Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans

✍ Meyers, Gregory A.; Orlow, Seth J.; Munro, Ian R.; Przylepa, Kelly A.; Jabs, Eth 📂 Article 📅 1995 🏛 Nature Publishing Group 🌐 English ⚖ 446 KB

Neuroimaging and neurological findings i

Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation

✍ Linnankivi, Tarja; Mäkitie, Outi; Valanne, Leena; Toiviainen-Salo, Sanna 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 265 KB

Temporal and occipital lobe features in

Temporal and occipital lobe features in children with hypochondroplasia/FGFR3 gene mutation

✍ Cristina M. Philpott, Elysa Widjaja, Charles Raybaud… 📂 Article 📅 2013 🏛 Springer-Verlag 🌐 English ⚖ 409 KB

A common FGFR3 gene mutation is present

A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia

✍ Stoilov, Ivaylo ;Kilpatrick, Michael W. ;Tsipouras, Petros 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 572 KB

Achondroplasia is the most common type of genetic dwarfism. It is characterized by disproportionate short stature and other skeletal anomalies resulting from a defect in the maturation of the chondrocytes in the growth plate of the cartilage. Recent studies mapped the achondroplasia gene on chromoso

A Novel Skeletal Dysplasia with Developm

A Novel Skeletal Dysplasia with Developmental Delay and Acanthosis Nigricans Is Caused by a Lys650Met Mutation in the Fibroblast Growth Factor Receptor 3 Gene

✍ Patricia L. Tavormina; Gary A. Bellus; Melanie K. Webster; Michael J. Bamshad; A 📂 Article 📅 1999 🏛 American Society of Human Genetics 🌐 English ⚖ 522 KB