Novel Mutation in the DKC1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome As a Rare Differential Diagnosis in Pontocerebellar Hypoplasia, Primary Microcephaly, and Progressive Bone Marrow Failure-Reference-Cited by-同舟云学术

Novel Mutation in the DKC1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome As a Rare Differential Diagnosis in Pontocerebellar Hypoplasia, Primary Microcephaly, and Progressive Bone Marrow Failure

Published:2016-03-07 Issue:03 Volume:47 Page:182-186
ISSN:0174-304X
Container-title:Neuropediatrics
language:en
Short-container-title:Neuropediatrics

Author:

Brenner Sebastian¹,Suttorp Meinolf¹,Hahn Gabriele²,Schützle Heike¹,Dinger Jürgen¹,Di Donato Nataliya³,Mackenroth Luisa³,von der Hagen Maja⁴,Dehmel Maria¹

Affiliation:

1. Klinik und Poliklinik für Kinder- und Jugendmedizin, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstraße, Dresden, Germany

2. Bereich Kinderradiologie, Institut und Poliklinik für Radiologische Diagnostik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstraße, Dresden, Germany

3. Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstraße, Dresden, Germany

4. Abteilung Neuropädiatrie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstraße, Dresden, Germany

Publisher

Georg Thieme Verlag KG

Subject

Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health

Link

http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0036-1578799.pdf

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