An unclassified congenital myopathy diagnosed as Snyder Robinson syndrome identified through the deciphering developmental disorders study

Authors :: Ddd Study
Kathryn Urankar
R. Newbury-Ecob
Seth Love
Kayal Vijayakumar
L. Bownass
Anirban Majumdar
Source :: Neuromuscular Disorders. 27:S186
Publication Year :: 2017
Publisher :: Elsevier BV, 2017.

Subjects :: Pediatrics
medicine.medical_specialty
business.industry
medicine.disease
Congenital myopathy
03 medical and health sciences
0302 clinical medicine
Neurology
030225 pediatrics
Pediatrics, Perinatology and Child Health
medicine
Neurology (clinical)
business
030217 neurology & neurosurgery
Genetics (clinical)
Snyder-Robinson syndrome

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