✦ LIBER ✦

Atypical achondroplasia

✍ Scribed by Gorlin, Robert J.

Book ID: 101216742
Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 79 KB
Volume: 70
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970516)70:2<202::aid-ajmg18>3.0.co;2-n

No coin nor oath required. For personal study only.

✦ Synopsis

Recently, Nishimura et al. [1995] reported atypical radiologic findings in achondroplasia with an uncommon mutation of the FGFR-3 gene. In this case it may be asked whether that child's condition may not represent a compound disorder of achondroplasia (inherited from the mother) modified by an unknown shortstature condition inherited from the father.

📜 SIMILAR VOLUMES

Atypical achondroplasia due to somatic m

Atypical achondroplasia due to somatic mosaicism for the common thanatophoric dysplasia mutation R248C

✍ Masaki Takagi; Saori Kaneko-Schmitt; Nobuhiro Suzumori; Gen Nishimura; Tomonobu 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 260 KB 👁 2 views

Obesity in achondroplasia

✍ Hecht, Jacqueline T. ;Hood, Opal Jean ;Schwartz, Robert J. ;Hennessey, Jill C. ; 📂 Article 📅 1988 🏛 John Wiley and Sons 🌐 English ⚖ 377 KB 👁 1 views

Achondroplasia-hypochondroplasia complex

✍ Sommer, Annemarie ;Young-Wee, Theresa ;Frye, Thomas ;Reynolds, James F. 📂 Article 📅 1987 🏛 John Wiley and Sons 🌐 English ⚖ 690 KB

Familial recurrence of achondroplasia

✍ Fitzsimmons, J. S. ;Opitz, John M. ;Reynolds, James F. 📂 Article 📅 1985 🏛 John Wiley and Sons 🌐 English ⚖ 300 KB 👁 3 views

Achondroplasia with ankylosing spondylit

Achondroplasia with ankylosing spondylitis

✍ Randolph, L. M. ;Shohat, M. ;Miller, D. ;Lachman, R. ;Rimoin, D. L. ;Opitz, John 📂 Article 📅 1988 🏛 John Wiley and Sons 🌐 English ⚖ 273 KB 👁 2 views

Cognitive skills in achondroplasia

✍ Brinkmann, G. ;Schlitt, H. ;Zorowka, P. ;Spranger, J. 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 446 KB 👁 1 views