Identification of biallelicLRRK1mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity-Reference-Cited by-同舟云学术

Identification of biallelicLRRK1mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity

Published:2016-04-07 Issue:8 Volume:53 Page:568-574
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Iida Aritoshi,Xing Weirong,Docx Martine K F,Nakashima Tomoki,Wang Zheng,Kimizuka Mamori,Van Hul Wim,Rating Dietz,Spranger Jürgen,Ohashi Hirohumi,Miyake Noriko,Matsumoto Naomichi,Mohan Subburaman,Nishimura Gen,Mortier Geert,Ikegawa Shiro

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference23 articles.

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3. Osteosclerotic metaphyseal dysplasia: a skeletal dysplasia that may mimic lead poisoning in a child with hypotonia and seizures;Mennel;Pediatr Radiol,2003

4. An extremely rare case: osteosclerotic metaphyseal dysplasia;Kasapkara;Genet Couns,2013

5. Osteosclerotic metaphyseal dysplasia with extensive interstitial pulmonary lesions: a case report and literature review;Zheng;Skeletal Radiol,2015

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