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The American Journal of Human Genetics, ISSN 0002-9297, 10/2017, Volume 101, Issue 4, pp. 552 - 563
The Sonic Hedgehog (SHH) pathway is a key signaling pathway orchestrating embryonic development, mainly of the CNS and limbs. In vertebrates, SHH signaling is... 
polymicrogyria | developmental defects | hypomorphic variants | congenital ataxia | ciliopathies | SUFU | Joubert syndrome | Sonic Hedgehog | molar tooth sign | GLI3 | SHH | SIGNALING PATHWAY | GENETICS & HEREDITY | PLANAR CELL POLARITY | CEREBELLAR DEVELOPMENT | GLI PROTEINS | MUTATIONS | KIF7 | MEDULLOBLASTOMA | PHENOTYPIC SPECTRUM | PRIMARY CILIA | Abnormalities, Multiple - pathology | Skin - metabolism | Humans | Zinc Finger Protein Gli3 | Hedgehog Proteins - metabolism | Male | Bone Diseases, Developmental - genetics | Mutation, Missense | Cerebellum - abnormalities | Bone Diseases, Developmental - pathology | Gene Expression Regulation, Developmental | Kruppel-Like Transcription Factors - metabolism | Kidney Diseases, Cystic - genetics | Craniofacial Abnormalities - pathology | Female | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Repressor Proteins - metabolism | Skin - pathology | Fibroblasts - metabolism | Repressor Proteins - chemistry | Signal Transduction | Cells, Cultured | Repressor Proteins - genetics | Eye Abnormalities - genetics | Fibroblasts - pathology | Genes, Recessive | Sequence Analysis, DNA | Cerebellum - pathology | Kidney Diseases, Cystic - pathology | Nerve Tissue Proteins - metabolism | Eye Abnormalities - pathology | Retina - abnormalities | Retina - pathology | Cohort Studies | Embryonic development | Usage | Gene mutations | Analysis | Nucleotide sequencing | Research | Diagnosis | Children | Health aspects | DNA sequencing | Index Medicus
Journal Article
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