Pontine Tegmental Cap Dysplasia With a 2q13 Microdeletion Involving the NPHP1 Gene: Insights Into Malformations of the Mid-Hindbrain-Reference-Cited by-同舟云学术

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Pontine Tegmental Cap Dysplasia With a 2q13 Microdeletion Involving the NPHP1 Gene: Insights Into Malformations of the Mid-Hindbrain

Published:2010-03 Issue:1 Volume:17 Page:69-74
ISSN:1071-9091
Container-title:Seminars in Pediatric Neurology
language:en
Short-container-title:Seminars in Pediatric Neurology

Author:

Macferran Kimberly M.,Buchmann Robert F.,Ramakrishnaiah Raghu,Griebel May L.,Sanger Warren G.,Saronwala Anirudh,Schaefer G. Bradley

Publisher

Elsevier BV

Subject

Neurology (clinical),Pediatrics, Perinatology and Child Health

Reference6 articles.

1. Pontine tegmental cap dysplasia: A novel brain malformation with a defect in axonal guidance;Barth;Brain,2007

2. Pontine tegmental cap dysplasia: The severe end of the clinical spectrum;Rauscher;Neuropediatrics,2009

3. Pontine tegmental cap dysplasia: MR imaging and diffusion tensor imaging features of impaired axonal navigation;Jissendi-Tchofo;AJNR Am J Neuroradiol,2009

4. Human malformations of the midbrain and hindbrain: Review and proposed classification scheme;Parisi;Mol Genet Metab,2003

5. Molar tooth sign of the midbrain-hindbrain junction: Occurrence in multiple distinct syndromes;Gleeson;Am J Med Genet A,2004

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1. Pontine Tegmental Cap Dysplasia: A Rare Brainstem Malformation Mimicking Hereditary Sensory Autonomic Neuropathy;Annals of Indian Academy of Neurology;2024-02-29

2. Congenital Brain Malformations: An Integrated Diagnostic Approach;Seminars in Pediatric Neurology;2022-07

3. Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population;Journal of Human Genetics;2022-02-09

4. Brain Malformations;Keeling's Fetal and Neonatal Pathology;2022

5. A rare cause of arterial hypertension in a child with developmental delay: Answers;Pediatric Nephrology;2021-10-19

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