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Maja von der Hagen, Lena-Luise Becker, Thomas F. Wienker et al.

Just Expect It: Compound Heterozygous Variants of POMT1 in a Consanguineous Family—The Role of Next Generation Sequencing in Neuromuscular Disorders

Published in: Neuropediatrics : journal of pediatric, neurobiology and neurogenetics ; official journal of the Society for Neuropediatrics 2019

Title

Just Expect It: Compound Heterozygous Variants of POMT1 in a Consanguineous Family—The Role of Next Generation Sequencing in Neuromuscular Disorders

Involved 
Maja von der Hagen (Sonstige)
Lena-Luise Becker (Sonstige)
Thomas F. Wienker (Sonstige)
Martin Smitka (Sonstige)
Luciana Musante (Sonstige)
Hans-Hilger Ropers (Sonstige)
Angela Huebner (Sonstige)
Hao Hu (Sonstige)
Angela M. Kaindl (Sonstige)

Published in

Neuropediatrics : journal of pediatric, neurobiology and neurogenetics ; official journal of the Society for Neuropediatrics 2019

Published

18.10.2019

Language

Englisch

Country

Deutschland

Subject
compound heterozygosity
consanguineous
POMT1
congenital muscular dystrophy dystrogylcanopathies
developmental delay
microcephaly

Persistent identifier

urn:nbn:de:101:1-2019120910313788562786 (URN)
10.1055/s-0039-1695787 (DOI)

Record ID

1201296102
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