NDLI: A case of cohesinopathy with a novel de-novo SMC1A splice site mutation

Content Provider	Scilit
Author	Hansen, Jörg Mohr, Julia Bürki, Sarah Elisabeth Lemke, Johannes R.
Copyright Year	2013
Description	Journal: Clinical dysmorphology
Related Links	https://www.zora.uzh.ch/id/eprint/168113/1/document.pdf
Ending Page	145
Page Count	3
Starting Page	143
ISSN	09628827
e-ISSN	14735717
DOI	10.1097/mcd.0b013e3283645439
Journal	Clinical dysmorphology
Issue Number	4
Volume Number	22
Language	English
Publisher	Ovid Technologies (Wolters Kluwer Health)
Publisher Date	2013-10-01
Access Restriction	Open
Subject Keyword	Journal: Clinical dysmorphology Gastroenterology and Hepatology
Content Type	Text
Resource Type	Article
Subject	Anatomy Pathology and Forensic Medicine Genetics (clinical) Pediatrics, Perinatology and Child Health

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A case of cohesinopathy with a novel de-novo SMC1A splice site mutation