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You search for a phrase ""Hedgehog Proteins metabolism"" according to the criterion: Subject Terms


Showing 1-7 from 7 results
Title :
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.
Authors :
De Mori, Roberta
Romani, Marta
D’Arrigo, Stefano
Zaki, Maha S.
Lorefice, Elisa
Tardivo, Silvia
Biagini, Tommaso
Stanley, Valentina
Musaev, Damir
Fluss, Joel
Micalizzi, Alessia
Nuovo, Sara
Illi, Barbara
Chiapparini, Luisa
Di Marcotullio, Lucia
Issa, Mahmoud Y.
Anello, Danila
Casella, Antonella
Ginevrino, Monia
Leggins, Autumn Sa’na
Roosing, Susanne
Alfonsi, Romina
Rosati, Jessica
Schot, Rachel
Mancini, Grazia Maria Simonetta
Bertini, Enrico
Dobyns, William B.
Mazza, Tommaso
Gleeson, Joseph G.
Valente, Enza Maria
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Subject Terms :
Polymicrogyria
Multiple/genetics/pathology
Developmental
Cultured
Zinc Finger Protein Gli3
SUFU
Bone Diseases
Hedgehog Proteins/metabolism
Fibroblasts/metabolism/pathology
Hypomorphic variants
Kruppel-Like Transcription Factors/metabolism
DNA
Molar tooth sign
Developmental/genetics/pathology
Sequence Analysis
Female
Congenital ataxia
ddc:618
Retina/abnormalities/pathology
Ciliopathies
Genes
Signal Transduction
Abnormalities
Cerebellum/abnormalities/pathology
Skin/metabolism/pathology
animal structures
Joubert syndrome
Nerve Tissue Proteins/metabolism
Article
Eye Abnormalities/genetics/pathology
Gene Expression Regulation
Mutation
Cells
Repressor Proteins/chemistry/genetics/metabolism
Developmental defects
Kidney Diseases
Cystic/genetics/pathology
Sonic Hedgehog
Cohort Studies
Missense
Craniofacial Abnormalities/genetics/pathology
Humans
Male
GLI3
Child
Recessive
Source :
American Journal of Human Genetics
American Journal of Human Genetics, Vol. 101, No 4 (2017) pp. 552-563
American Journal of Human Genetics, 101, 552 - 563
File Description :
application/pdf
    Showing 1-7 from 7 results

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