Severe hypotonia and postnatal growth impairment in a girl with a missense mutation in COL1A1 : Implication of expanded phenotypic spectrum of type I collagenopathy-Reference-Cited by-同舟云学术

Severe hypotonia and postnatal growth impairment in a girl with a missense mutation in COL1A1 : Implication of expanded phenotypic spectrum of type I collagenopathy

Published:2017-10 Issue:9 Volume:39 Page:799-803
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Lee Jin Sook,Seo Jieun,Cho Anna,Lim Byung Chan,Choi Murim,Kim Jung-Wook,Kim Ok-Hwa,Cho Tae-Joon,Chae Jong-Hee

Funder

KHIDI

Ministry for Health & Welfare, Republic of Korea

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health

Reference13 articles.

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2. A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders;Gensure;J Clin Invest,2005

3. Type 1 collagenopathy presenting with a Russell-Silver phenotype;Parker;Am J Med Genet A,2011

4. Collagenopathy with a phenotype resembling Silver-Russell syndrome phenotype;Cianci;Am J Med Genet A,2013

5. Russell-Silver syndrome;Eggermann;Am J Med Genet C Semin Med Genet,2010

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