✦ LIBER ✦

Refinement of the locus for X-linked recessive chondrodysplasia punctata

✍ Scribed by Koji Muroya; Tsutomu Ogata; Gudrun Rappold; Albrecht Klink; Yutaka Nakahori; Yoshimitsu Fukushima; Katsuya Aizu; Nobutake Matsuo

Book ID: 104670890
Publisher: Springer
Year: 1995
Tongue: English
Weight: 317 KB
Volume: 95
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00223874

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Chondrodysplasia punctata: A boy with X-

Chondrodysplasia punctata: A boy with X-linked recessive chondrodysplasia punctata due to an inherited X-Y translocation with a current classification of these disorders

✍ Wulfsberg, Eric A. ;Curtis, Jerri ;Jayne, Carol H. 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 755 KB

X-linked recessive chondrodysplasia punc

X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene

✍ Parenti, Giancarlo; Buttitta, Piera; Meroni, Germana; Franco, Brunella; Bernard, 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 19 KB 👁 2 views

Chondrodysplasia punctata (CP) is a heterogeneous group of bone dysplasias that are characterized by abnormal calcium deposition in areas of enchondral bone formation. The existence of an X-linked recessive form of chondrodysplasia punctata (CDPX) has been recognized in patients who are nullisomic f

X-linked recessive chondrodysplasia punc

X-linked recessive chondrodysplasia punctata: Spectrum of arylsulfatase E gene mutations and expanded clinical variability

✍ Nicola Brunetti-Pierri; Maria Vittoria Andreucci; Rosaria Tuzzi; Giovanna Robert 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 68 KB 👁 2 views

## Abstract X‐linked chondrodysplasia punctata (CDPX1), due to mutations of the arylsulfatase E (__ARSE__) gene, is a congenital disorder characterized by abnormalities in cartilage and bone development. We performed mutational analysis of the __ARSE__ gene in a series of 16 male patients, and we f

High-density physical mapping of a 3-Mb

High-density physical mapping of a 3-Mb region in Xp22.3 and refined localization of the gene for X-linked recessive chondrodysplasia punctata (CDPX1)

✍ Irène Wang; Brunella Franco; Giovanni B. Ferrero; A.Craig Chinault; Jean Weissen 📂 Article 📅 1995 🏛 Elsevier Science 🌐 English ⚖ 1014 KB

Prenatal findings in a fetus with contig

Prenatal findings in a fetus with contiguous gene syndrome caused by deletion of Xp22.3 that includes locus for X-linked recessive type of chondrodysplasia punctata (CDPX1)

✍ Tsuguhiro Horikoshi; Akihiko Kikuchi; Shunsuke Tamaru; Kyoko Ono; Mariko Kita; K 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 600 KB

A patient with an interstitial deletion

A patient with an interstitial deletion in Xp22.3 locates the gene for X-linked recessive chondrodysplasia punctata to within a one megabase interval

✍ Albrecht Klink; Alfons Meindl; Heide Hellebrand; Gudrun A. Rappold 📂 Article 📅 1994 🏛 Springer 🌐 English ⚖ 797 KB

A male patient carrying an interstitial deletion in Xp22.3 and affected by Kallmann syndrome, X-linked ichthyosis and mental retardation, but without chondrodysplasia punctata or short stature, was investigated with molecular probes from the distal Xp22.3 region. By means of a novel probe, M115, fro