Literature DB >> 5697256

[A new bone syndrome with skin anomalies and neurologic disorders].

C Roy, P Maroteaux, L Kremp, V Courtecuisse, D Alagille.   

Abstract

Entities:  

Mesh：

Year:  1968        PMID： 5697256

Source DB:  PubMed          Journal:  Arch Fr Pediatr        ISSN： 0003-9764


× No keyword cloud information.
  4 in total

Review 1.  Craniotubular bone disorders.

Authors:  R J Gorlin
Journal:  Pediatr Radiol       Date:  1994

2.  Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis.

Authors:  Philippe M Campeau; James T Lu; Gautam Sule; Ming-Ming Jiang; Yangjin Bae; Simran Madan; Wolfgang Högler; Nicholas J Shaw; Steven Mumm; Richard A Gibbs; Michael P Whyte; Brendan H Lee
Journal:  Hum Mol Genet       Date:  2012-08-08       Impact factor: 6.150

3.  X-linked dysosteosclerosis. Four familial cases.

Authors:  I Pascual-Castroviejo; C Casas-Fernandez; V Lopez-Martin; A Martinez-Bermejo
Journal:  Eur J Pediatr       Date:  1977-10-12       Impact factor: 3.183

Review 4.  Dysosteosclerosis presents as an "osteoclast-poor" form of osteopetrosis: comprehensive investigation of a 3-year-old girl and literature review.

Authors:  Michael P Whyte; Deborah Wenkert; William H McAlister; Deborah V Novack; Angie R Nenninger; Xiafang Zhang; Margaret Huskey; Steven Mumm
Journal:  J Bone Miner Res       Date:  2010-11       Impact factor: 6.741
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.