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American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, ISSN 1552-4868, 2014, Volume 166, Issue 2, pp. 173 - 183
Journal Article
Nature genetics, ISSN 1061-4036, 2017, Volume 49, Issue 3, pp. 457 - 464
Journal Article
Human Mutation, ISSN 1059-7794, 12/2015, Volume 36, Issue 12, pp. 1155 - 1158
Journal Article
Journal Article
Neurology, ISSN 0028-3878, 2013, Volume 80, Issue 5, pp. 438 - 446
Journal Article
Journal of Neuroscience, ISSN 0270-6474, 01/2015, Volume 35, Issue 3, pp. 936 - 942
Spinal muscular atrophy with pontocerebellar hypoplasia (SMA-PCH) is an infantile SMA variant with additional manifestations, particularly severe microcephaly.... 
SMA-PCH (spinal muscular atrophy pontocerebellar hypoplasia) | APP | Neuronal migration | VRK1 | PHENOTYPE | DISORDERS | DEPLETION | IDENTIFICATION | NEUROSCIENCES | INTERACT | SIGNALING PATHWAY | neuronal migration | EXPRESSION | KINASES | Cell Cycle - genetics | Spinal Muscular Atrophies of Childhood - genetics | Developmental Disabilities - metabolism | Humans | Neurons - cytology | Developmental Disabilities - genetics | Intracellular Signaling Peptides and Proteins - metabolism | Cerebellum - abnormalities | Spinal Muscular Atrophies of Childhood - metabolism | Cerebral Cortex - cytology | Cell Movement - genetics | Cerebral Cortex - metabolism | Developmental Disabilities - pathology | Cerebellar Diseases - pathology | Nervous System Malformations - metabolism | Amyloid beta-Protein Precursor - metabolism | Neurons - metabolism | Nervous System Malformations - genetics | Intracellular Signaling Peptides and Proteins - genetics | Protein-Serine-Threonine Kinases - metabolism | Cerebellar Diseases - metabolism | Nervous System Malformations - pathology | Cerebellum - metabolism | Protein-Serine-Threonine Kinases - genetics | Spinal Muscular Atrophies of Childhood - pathology | Cerebellum - pathology | Magnetic Resonance Imaging | Amyloid beta-Protein Precursor - genetics | Animals | Cerebellar Diseases - genetics | Cell Line, Tumor | Mice | Index Medicus | Brief Communications
Journal Article
Nature Genetics, ISSN 1061-4036, 06/2012, Volume 44, Issue 6, pp. 704 - 708
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 05/2018, Volume 26, Issue 5, pp. 695 - 708
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2019, Volume 179, Issue 6, pp. 1053 - 1057
We report two siblings with microcephaly, early infantile onset seizures, and cerebellar vermis hypoplasia, in whom whole exome sequencing revealed a novel... 
microcephaly | cerebellar vermis hypoplasia | HHAT | Nivelon–Nivelon–Mabille syndrome | missense variant | GENE | SONIC HEDGEHOG | MUTATION | GENETICS & HEREDITY | Nivelon-Nivelon-Mabille syndrome | Enzymes | Genomics | Seizures (Medicine) | Hypoplasia | Cerebellum | Microencephaly | Microcephaly | Hedgehog protein | Seizures
Journal Article