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Joubert Syndrome and related disordersJoubert syndrome and related disorders.Clinical and molecular features of Joubert syndrome and related disorders.Genetic basis of Joubert syndrome and related disorders of cerebellar development.Whole-exome sequencing and digital PCR identified a novel compound heterozygous mutation in the NPHP1 gene in a case of Joubert syndrome and related disorders.Mutation spectrum of Joubert syndrome and related disorders among Arabs.Genetic complexity in Joubert syndrome and related disorders.Genotypes and phenotypes of Joubert syndrome and related disorders.Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disordersJoubert syndrome and related disorders, prenatal diagnosis with ultrasound and magnetic resonance imaging.Severe aortic stenosis, bicuspid aortic valve and atrial septal defect in a child with Joubert Syndrome and Related Disorders (JSRD) - a case report and review of congenital heart defects reported in the human ciliopathies.[Joubert syndrome and related disorders].Erratum: Mutation spectrum of Joubert syndrome and related disorders among Arabs.The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.A commentary on the diagnostic utility of exome sequencing in Joubert syndrome and related disorders.Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center.A Homozygous Missense Variant in INPP5E Associated with Joubert Syndrome and Related Disorders.The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.Joubert syndrome (and related disorders) (OMIM 213300).Molar tooth sign in fetal brain magnetic resonance imaging leading to the prenatal diagnosis of Joubert syndrome and related disorders.Enlarged intracranial translucency and molar tooth sign in the first trimester as features of Joubert syndrome and related disorders.Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients.Decaying molar tooth sign in Joubert syndrome and related disorders is correlated to a displacement of the corticospinal tract.Joubert syndrome and related disorders: a rare cause of intrahepatic portal hypertension in childhood.Joubert syndrome and related disorders: a paradigm to understand splitting and lumping in ciliopathies
P921
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P921
name
Joubert syndrome and related disorders
@en
type
label
Joubert syndrome and related disorders
@en
altLabel
JSRD
@en
Joubert syndrome related disorder
@en
Joubert syndrome
@en
prefLabel
Joubert syndrome and related disorders
@en
P1325
P1550
P2888
P5270
MONDO:0015369